{ "batchid": 14, "recordid": "P98161-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs2151728391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151728391" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3407, "end_pos": 3407, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097729", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3407", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1297060661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297060661" }, { "id": "rs1297060661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297060661" } ], "glycoeffect": [], "start_pos": 3408, "end_pos": 3408, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097501", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1296638609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296638609" }, { "id": "rs1296638609", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1296638609" } ], "glycoeffect": [], "start_pos": 3408, "end_pos": 3408, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097502", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779510789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779510789" }, { "id": "rs779510789", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779510789" }, { "id": "rs779510789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779510789#frequency_tab" }, { "id": "rs779510789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779510789" } ], "glycoeffect": [], "start_pos": 3409, "end_pos": 3409, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097498", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779510789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779510789" }, { "id": "rs779510789", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779510789" }, { "id": "rs779510789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779510789#frequency_tab" }, { "id": "rs779510789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779510789" } ], "glycoeffect": [], "start_pos": 3409, "end_pos": 3409, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097498", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs61747420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61747420" }, { "id": "rs61747420", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61747420" }, { "id": "rs61747420", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61747420" }, { "id": "rs61747420", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61747420#frequency_tab" }, { "id": "rs61747420", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61747420" } ], "glycoeffect": [], "start_pos": 3409, "end_pos": 3409, "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097499", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V3409", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406565745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406565745" }, { "id": "rs1406565745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406565745" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117973", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769539998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769539998" }, { "id": "rs769539998", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769539998" }, { "id": "rs769539998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769539998#frequency_tab" }, { "id": "rs769539998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769539998" } ], "glycoeffect": [], "start_pos": 3410, "end_pos": 3410, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097495", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C3410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1395927794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395927794" }, { "id": "rs1395927794", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1395927794#frequency_tab" }, { "id": "rs1395927794", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395927794" } ], "glycoeffect": [], "start_pos": 3410, "end_pos": 3410, "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097494", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C3410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs769539998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769539998" }, { "id": "rs769539998", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769539998" }, { "id": "rs769539998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769539998#frequency_tab" }, { "id": "rs769539998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769539998" }, { "id": "rs769539998", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769539998" } ], "glycoeffect": [], "start_pos": 3410, "end_pos": 3410, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097495", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C3410", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1300254603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300254603" }, { "id": "rs1300254603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300254603" } ], "glycoeffect": [], "start_pos": 3411, "end_pos": 3411, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097491", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3411", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1300254603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300254603" }, { "id": "rs1300254603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300254603" } ], "glycoeffect": [], "start_pos": 3411, "end_pos": 3411, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097491", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs549326097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549326097" }, { "id": "rs549326097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs549326097" }, { "id": "rs549326097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs549326097#frequency_tab" }, { "id": "rs549326097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs549326097" } ], "glycoeffect": [], "start_pos": 3411, "end_pos": 3411, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097492", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596501760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596501760" } ], "glycoeffect": [], "start_pos": 3411, "end_pos": 3411, "sequence_org": "W", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097492", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3411", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1389951508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389951508" }, { "id": "rs1389951508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389951508" } ], "glycoeffect": [], "start_pos": 3412, "end_pos": 3412, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097489", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs149605181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149605181" }, { "id": "rs149605181", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149605181" }, { "id": "rs149605181", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149605181" }, { "id": "rs149605181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149605181#frequency_tab" }, { "id": "rs149605181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149605181" }, { "id": "rs149605181", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149605181" } ], "glycoeffect": [], "start_pos": 3412, "end_pos": 3412, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097490", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3412", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs137986581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137986581" }, { "id": "rs137986581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137986581" }, { "id": "rs137986581", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137986581#frequency_tab" }, { "id": "rs137986581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137986581" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3413, "end_pos": 3413, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097486", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544689115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544689115" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3413, "end_pos": 3413, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097490", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371762181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371762181" }, { "id": "rs371762181", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371762181" }, { "id": "rs371762181", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371762181" }, { "id": "rs371762181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371762181#frequency_tab" }, { "id": "rs371762181", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371762181" } ], "glycoeffect": [], "start_pos": 3414, "end_pos": 3414, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097484", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G3414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752880451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752880451" }, { "id": "rs752880451", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752880451" }, { "id": "rs752880451", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752880451#frequency_tab" }, { "id": "rs752880451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752880451" }, { "id": "rs752880451", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752880451" } ], "glycoeffect": [], "start_pos": 3415, "end_pos": 3415, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097481", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3415", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1197492524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197492524" }, { "id": "rs1197492524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197492524" } ], "glycoeffect": [], "start_pos": 3416, "end_pos": 3416, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097478", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596501702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596501702" } ], "glycoeffect": [], "start_pos": 3416, "end_pos": 3416, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097479", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765373300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765373300" }, { "id": "rs765373300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765373300" }, { "id": "rs765373300", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765373300#frequency_tab" }, { "id": "rs765373300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765373300" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3417, "end_pos": 3417, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097475", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377052445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377052445" }, { "id": "rs377052445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377052445" }, { "id": "rs377052445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377052445#frequency_tab" }, { "id": "rs377052445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377052445" }, { "id": "rs377052445", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377052445" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3417, "end_pos": 3417, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097474", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3417", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs377052445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377052445" }, { "id": "rs377052445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377052445" }, { "id": "rs377052445", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377052445#frequency_tab" }, { "id": "rs377052445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377052445" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3417, "end_pos": 3417, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097474", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1361916151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361916151" }, { "id": "rs1361916151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361916151" } ], "glycoeffect": [], "start_pos": 3418, "end_pos": 3418, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097471", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs914151219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914151219" }, { "id": "rs914151219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs914151219#frequency_tab" }, { "id": "rs914151219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs914151219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3419, "end_pos": 3419, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097469", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs914151219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914151219" }, { "id": "rs914151219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs914151219#frequency_tab" }, { "id": "rs914151219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs914151219" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3419, "end_pos": 3419, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097469", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773523147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773523147" }, { "id": "rs773523147", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773523147" }, { "id": "rs773523147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773523147" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3419, "end_pos": 3419, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097468", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2855337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2855337" }, { "id": "rs2855337", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2855337#frequency_tab" }, { "id": "rs2855337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2855337" } ], "glycoeffect": [], "start_pos": 341, "end_pos": 341, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117971", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544878096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544878096" } ], "glycoeffect": [], "start_pos": 341, "end_pos": 341, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117975", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs2151727019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151727019" }, { "id": "rs2151727019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151727019" } ], "glycoeffect": [], "start_pos": 3420, "end_pos": 3420, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097464", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W3420", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091893602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091893602" }, { "id": "rs2091893602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091893602#frequency_tab" } ], "glycoeffect": [], "start_pos": 3420, "end_pos": 3420, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097464", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs545053536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545053536" }, { "id": "rs545053536", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs545053536" }, { "id": "rs545053536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545053536" }, { "id": "rs545053536", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs545053536#frequency_tab" }, { "id": "rs545053536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs545053536" }, { "id": "rs545053536", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs545053536" } ], "glycoeffect": [], "start_pos": 3421, "end_pos": 3421, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097462", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3421", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs545053536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545053536" }, { "id": "rs545053536", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs545053536" }, { "id": "rs545053536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545053536" }, { "id": "rs545053536", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs545053536#frequency_tab" }, { "id": "rs545053536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs545053536" } ], "glycoeffect": [], "start_pos": 3421, "end_pos": 3421, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097462", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309699863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309699863" }, { "id": "rs1309699863", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309699863" } ], "glycoeffect": [], "start_pos": 3421, "end_pos": 3421, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097463", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3421", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544688790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544688790" } ], "glycoeffect": [], "start_pos": 3421, "end_pos": 3421, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097462_2097465", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3421", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs769418821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769418821" }, { "id": "rs769418821", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769418821" }, { "id": "rs769418821", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769418821" } ], "glycoeffect": [], "start_pos": 3422, "end_pos": 3422, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097460", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3422", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1282609791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282609791" }, { "id": "rs1282609791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282609791#frequency_tab" }, { "id": "rs1282609791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282609791" } ], "glycoeffect": [], "start_pos": 3423, "end_pos": 3423, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097457", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs776300382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776300382" }, { "id": "rs776300382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776300382" }, { "id": "rs776300382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776300382#frequency_tab" }, { "id": "rs776300382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776300382" }, { "id": "rs776300382", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776300382" } ], "glycoeffect": [], "start_pos": 3424, "end_pos": 3424, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097454", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L3424", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2091893171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091893171" }, { "id": "rs2091893171", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091893171" } ], "glycoeffect": [], "start_pos": 3424, "end_pos": 3424, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097453", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776300382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776300382" }, { "id": "rs776300382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776300382" }, { "id": "rs776300382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776300382#frequency_tab" }, { "id": "rs776300382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776300382" } ], "glycoeffect": [], "start_pos": 3424, "end_pos": 3424, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097454", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs978481700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978481700" }, { "id": "rs978481700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs978481700#frequency_tab" }, { "id": "rs978481700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978481700" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3425, "end_pos": 3425, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097451", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs978481700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978481700" }, { "id": "rs978481700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs978481700#frequency_tab" }, { "id": "rs978481700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978481700" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3425, "end_pos": 3425, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097451", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746835479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746835479" }, { "id": "rs746835479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746835479" }, { "id": "rs746835479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746835479" } ], "glycoeffect": [], "start_pos": 3426, "end_pos": 3426, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097446", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373894977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373894977" }, { "id": "rs373894977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373894977" } ], "glycoeffect": [], "start_pos": 3427, "end_pos": 3427, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097445", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs531914267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531914267" }, { "id": "rs531914267", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531914267" }, { "id": "rs531914267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531914267" }, { "id": "rs531914267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531914267" }, { "id": "rs531914267", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531914267" } ], "glycoeffect": [], "start_pos": 3427, "end_pos": 3427, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097444", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3427", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs531914267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531914267" }, { "id": "rs531914267", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531914267" }, { "id": "rs531914267", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs531914267" }, { "id": "rs531914267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs531914267" }, { "id": "rs531914267", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531914267" } ], "glycoeffect": [], "start_pos": 3427, "end_pos": 3427, "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3427", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs373894977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373894977" }, { "id": "rs373894977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373894977" } ], "glycoeffect": [], "start_pos": 3427, "end_pos": 3427, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097445", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1223040043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223040043" }, { "id": "rs1223040043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223040043" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3428, "end_pos": 3428, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097441", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151726918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151726918" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3428, "end_pos": 3428, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097446", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3428", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs371881043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371881043" }, { "id": "rs371881043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371881043" }, { "id": "rs371881043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371881043#frequency_tab" }, { "id": "rs371881043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371881043" } ], "glycoeffect": [], "start_pos": 3429, "end_pos": 3429, "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097439", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371881043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371881043" }, { "id": "rs371881043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371881043" }, { "id": "rs371881043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371881043#frequency_tab" }, { "id": "rs371881043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371881043" } ], "glycoeffect": [], "start_pos": 3429, "end_pos": 3429, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097439", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244926793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244926793" }, { "id": "rs1244926793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244926793#frequency_tab" }, { "id": "rs1244926793", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244926793" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117968", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289793709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289793709" }, { "id": "rs1289793709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289793709#frequency_tab" }, { "id": "rs1289793709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289793709" } ], "glycoeffect": [], "start_pos": 3431, "end_pos": 3431, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097433", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289793709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289793709" }, { "id": "rs1289793709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289793709#frequency_tab" }, { "id": "rs1289793709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289793709" } ], "glycoeffect": [], "start_pos": 3431, "end_pos": 3431, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097433", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3431", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3432, "end_pos": 3432, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097430", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S3432", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3432, "end_pos": 3432, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097429", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3432", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2091892492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091892492" }, { "id": "rs2091892492", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091892492" } ], "glycoeffect": [], "start_pos": 3433, "end_pos": 3433, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097426", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3433", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779097316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779097316" }, { "id": "rs779097316", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779097316" }, { "id": "rs779097316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779097316#frequency_tab" }, { "id": "rs779097316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779097316" } ], "glycoeffect": [], "start_pos": 3433, "end_pos": 3433, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097427", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3433", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3435, "end_pos": 3435, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097421", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R3435", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs140189010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140189010" }, { "id": "rs140189010", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140189010" }, { "id": "rs140189010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140189010" }, { "id": "rs140189010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140189010#frequency_tab" }, { "id": "rs140189010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140189010" }, { "id": "rs140189010", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140189010" } ], "glycoeffect": [], "start_pos": 3435, "end_pos": 3435, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097420", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3435", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs562831339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562831339" }, { "id": "rs562831339", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562831339" }, { "id": "rs562831339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562831339" }, { "id": "rs562831339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562831339#frequency_tab" }, { "id": "rs562831339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562831339" }, { "id": "rs562831339", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562831339" } ], "glycoeffect": [], "start_pos": 3435, "end_pos": 3435, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097421", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3435", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2151726823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151726823" }, { "id": "rs2151726823", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151726823" } ], "glycoeffect": [], "start_pos": 3436, "end_pos": 3436, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097418", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3436", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2544688079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544688079" }, { "id": "rs2544688348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544688348" } ], "glycoeffect": [], "start_pos": 3436, "end_pos": 3436, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097398_2097420", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3436", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs756485613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756485613" }, { "id": "rs756485613", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756485613" }, { "id": "rs756485613", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756485613#frequency_tab" }, { "id": "rs756485613", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756485613" } ], "glycoeffect": [], "start_pos": 3437, "end_pos": 3437, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097415", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1407203916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407203916" }, { "id": "rs1407203916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407203916" } ], "glycoeffect": [], "start_pos": 3437, "end_pos": 3437, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097414", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1344032673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344032673" }, { "id": "rs1344032673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344032673" }, { "id": "rs1344032673", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1344032673" } ], "glycoeffect": [], "start_pos": 3438, "end_pos": 3438, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097412", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3438", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs138546384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138546384" }, { "id": "rs138546384", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138546384" }, { "id": "rs138546384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138546384" }, { "id": "rs138546384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138546384#frequency_tab" }, { "id": "rs138546384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138546384" } ], "glycoeffect": [], "start_pos": 3439, "end_pos": 3439, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097408", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138546384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138546384" }, { "id": "rs138546384", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138546384" }, { "id": "rs138546384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138546384" }, { "id": "rs138546384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138546384#frequency_tab" }, { "id": "rs138546384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138546384" } ], "glycoeffect": [], "start_pos": 3439, "end_pos": 3439, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097408", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs374486955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374486955" }, { "id": "rs374486955", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374486955" }, { "id": "rs374486955", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374486955#frequency_tab" }, { "id": "rs374486955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374486955" }, { "id": "rs374486955", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374486955" } ], "glycoeffect": [], "start_pos": 3439, "end_pos": 3439, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097409", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3439", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2151823309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151823309" }, { "id": "rs2151823309", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151823309" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117965", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756720009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756720009" }, { "id": "rs756720009", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756720009" }, { "id": "rs756720009", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756720009" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117964", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091891993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091891993" } ], "glycoeffect": [], "start_pos": 3440, "end_pos": 3440, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097408", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3440", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs918228674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918228674" } ], "glycoeffect": [], "start_pos": 3441, "end_pos": 3441, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097403", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3441", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs918228674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918228674" }, { "id": "rs918228674", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs918228674#frequency_tab" }, { "id": "rs918228674", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs918228674" } ], "glycoeffect": [], "start_pos": 3441, "end_pos": 3441, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097403", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346048514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346048514" }, { "id": "rs1346048514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346048514" } ], "glycoeffect": [], "start_pos": 3441, "end_pos": 3441, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097402", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544688140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544688140" } ], "glycoeffect": [], "start_pos": 3441, "end_pos": 3441, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097402_2097406", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3441", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs144593342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144593342" }, { "id": "rs144593342", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144593342" }, { "id": "rs144593342", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144593342" }, { "id": "rs144593342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144593342#frequency_tab" }, { "id": "rs144593342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144593342" } ], "glycoeffect": [], "start_pos": 3442, "end_pos": 3442, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097399", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3442", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3442, "end_pos": 3442, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097400", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3442", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776210530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776210530" }, { "id": "rs776210530", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776210530" }, { "id": "rs776210530", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776210530" } ], "glycoeffect": [], "start_pos": 3443, "end_pos": 3443, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097397", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3443", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1415478229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415478229" }, { "id": "rs1415478229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1415478229#frequency_tab" }, { "id": "rs1415478229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415478229" } ], "glycoeffect": [], "start_pos": 3444, "end_pos": 3444, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097393", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs899926250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs899926250" }, { "id": "rs899926250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs899926250#frequency_tab" } ], "glycoeffect": [], "start_pos": 3444, "end_pos": 3444, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097394", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773100218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773100218" }, { "id": "rs773100218", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773100218" }, { "id": "rs773100218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773100218" } ], "glycoeffect": [], "start_pos": 3445, "end_pos": 3445, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773100218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773100218" }, { "id": "rs773100218", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773100218" }, { "id": "rs773100218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773100218" } ], "glycoeffect": [], "start_pos": 3445, "end_pos": 3445, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097390", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3447, "end_pos": 3447, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097384", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3447", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs990994932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs990994932" }, { "id": "rs990994932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs990994932#frequency_tab" }, { "id": "rs990994932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs990994932" } ], "glycoeffect": [], "start_pos": 3447, "end_pos": 3447, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097384", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377535829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377535829" }, { "id": "rs377535829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377535829" }, { "id": "rs377535829", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377535829#frequency_tab" }, { "id": "rs377535829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377535829" } ], "glycoeffect": [], "start_pos": 3448, "end_pos": 3448, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097382", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264235880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264235880" }, { "id": "rs1264235880", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264235880" } ], "glycoeffect": [], "start_pos": 3448, "end_pos": 3448, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097381", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377535829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377535829" }, { "id": "rs377535829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377535829" }, { "id": "rs377535829", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377535829#frequency_tab" }, { "id": "rs377535829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377535829" } ], "glycoeffect": [], "start_pos": 3448, "end_pos": 3448, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097382", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377535829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377535829" }, { "id": "rs377535829", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377535829" }, { "id": "rs377535829", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377535829#frequency_tab" }, { "id": "rs377535829", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377535829" } ], "glycoeffect": [], "start_pos": 3448, "end_pos": 3448, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097382", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3449, "end_pos": 3449, "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097379", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E3449", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1465210565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465210565" }, { "id": "rs1465210565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465210565" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117961", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465210565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465210565" }, { "id": "rs1465210565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465210565" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117961", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs780009030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780009030" }, { "id": "rs780009030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780009030" }, { "id": "rs780009030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780009030#frequency_tab" }, { "id": "rs780009030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780009030" }, { "id": "rs780009030", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780009030" } ], "glycoeffect": [], "start_pos": 3450, "end_pos": 3450, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097376", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E3450", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1391324708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391324708" }, { "id": "rs1391324708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1391324708#frequency_tab" }, { "id": "rs1391324708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391324708" } ], "glycoeffect": [], "start_pos": 3450, "end_pos": 3450, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097374", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E3450", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321795630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321795630" }, { "id": "rs1321795630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321795630" } ], "glycoeffect": [], "start_pos": 3450, "end_pos": 3450, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097375", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3450", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780009030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780009030" }, { "id": "rs780009030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780009030" }, { "id": "rs780009030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780009030#frequency_tab" }, { "id": "rs780009030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780009030" }, { "id": "rs780009030", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780009030" } ], "glycoeffect": [], "start_pos": 3450, "end_pos": 3450, "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097376", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3450", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs146507511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146507511" }, { "id": "rs146507511", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146507511" }, { "id": "rs146507511", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146507511#frequency_tab" }, { "id": "rs146507511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146507511" } ], "glycoeffect": [], "start_pos": 3451, "end_pos": 3451, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097373", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372470924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372470924" }, { "id": "rs372470924", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372470924" }, { "id": "rs372470924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372470924#frequency_tab" }, { "id": "rs372470924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372470924" } ], "glycoeffect": [], "start_pos": 3452, "end_pos": 3452, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097370", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3452", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1432457671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432457671" }, { "id": "rs1432457671", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1432457671#frequency_tab" }, { "id": "rs1432457671", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1432457671" }, { "id": "rs1432457671", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1432457671" } ], "glycoeffect": [], "start_pos": 3452, "end_pos": 3452, "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097369", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3452", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs372470924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372470924" }, { "id": "rs372470924", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372470924" }, { "id": "rs372470924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372470924#frequency_tab" }, { "id": "rs372470924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372470924" } ], "glycoeffect": [], "start_pos": 3452, "end_pos": 3452, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097370", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3452", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs936935168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936935168" }, { "id": "rs936935168", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs936935168" }, { "id": "rs936935168", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs936935168" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3454, "end_pos": 3454, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097363", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3454", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151726623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151726623" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3454, "end_pos": 3454, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097367", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3454", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3455, "end_pos": 3455, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097361", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L3455", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1596501222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596501222" }, { "id": "rs1596501222", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596501222" } ], "glycoeffect": [], "start_pos": 3455, "end_pos": 3455, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097360", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596501222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596501222" }, { "id": "rs1596501222", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596501222" } ], "glycoeffect": [], "start_pos": 3455, "end_pos": 3455, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097360", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370498086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370498086" }, { "id": "rs370498086", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370498086" }, { "id": "rs370498086", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370498086#frequency_tab" }, { "id": "rs370498086", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370498086" } ], "glycoeffect": [], "start_pos": 3456, "end_pos": 3456, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097358", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3456", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2151726564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151726564" }, { "id": "rs2151726564", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151726564" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3457, "end_pos": 3457, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097355", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1422770402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1422770402" }, { "id": "rs1422770402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1422770402" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3457, "end_pos": 3457, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097354", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759034846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759034846" }, { "id": "rs759034846", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759034846" }, { "id": "rs759034846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759034846" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3457, "end_pos": 3457, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097353", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs980940314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980940314" }, { "id": "rs980940314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs980940314#frequency_tab" }, { "id": "rs980940314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs980940314" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097352", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097351", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P3458", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs969576425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969576425" }, { "id": "rs969576425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969576425#frequency_tab" }, { "id": "rs969576425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs969576425" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097351", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs980940314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980940314" }, { "id": "rs980940314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs980940314#frequency_tab" }, { "id": "rs980940314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs980940314" } ], "glycoeffect": [], "start_pos": 3458, "end_pos": 3458, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097352", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3458", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596501163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596501163" }, { "id": "rs1596501163", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596501163" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3459, "end_pos": 3459, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097347", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3459", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753414869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753414869" }, { "id": "rs753414869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753414869" }, { "id": "rs753414869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753414869#frequency_tab" }, { "id": "rs753414869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753414869" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3459, "end_pos": 3459, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097348", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3459", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753414869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753414869" }, { "id": "rs753414869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753414869" }, { "id": "rs753414869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753414869#frequency_tab" }, { "id": "rs753414869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753414869" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3459, "end_pos": 3459, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097348", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3459", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270194933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270194933" }, { "id": "rs1270194933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270194933#frequency_tab" }, { "id": "rs1270194933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270194933" } ], "glycoeffect": [], "start_pos": 345, "end_pos": 345, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117959", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs373743750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373743750" }, { "id": "rs373743750", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373743750" }, { "id": "rs373743750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373743750" }, { "id": "rs373743750", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373743750#frequency_tab" }, { "id": "rs373743750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373743750" }, { "id": "rs373743750", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373743750" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3460, "end_pos": 3460, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097345", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3460", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs373743750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373743750" }, { "id": "rs373743750", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373743750" }, { "id": "rs373743750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373743750" }, { "id": "rs373743750", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373743750#frequency_tab" }, { "id": "rs373743750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373743750" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3460, "end_pos": 3460, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097345", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3460", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091889846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091889846" }, { "id": "rs2091889846", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091889846" } ], "glycoeffect": [], "start_pos": 3461, "end_pos": 3461, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097342", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs569222960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569222960" }, { "id": "rs569222960", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569222960" }, { "id": "rs569222960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569222960" }, { "id": "rs569222960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs569222960#frequency_tab" }, { "id": "rs569222960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs569222960" } ], "glycoeffect": [], "start_pos": 3461, "end_pos": 3461, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097343", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P3461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1033072701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033072701" }, { "id": "rs1033072701", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1033072701" } ], "glycoeffect": [], "start_pos": 3462, "end_pos": 3462, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150020128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150020128" }, { "id": "rs150020128", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150020128" }, { "id": "rs150020128", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150020128#frequency_tab" }, { "id": "rs150020128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150020128" } ], "glycoeffect": [], "start_pos": 3463, "end_pos": 3463, "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097337", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150020128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150020128" }, { "id": "rs150020128", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150020128" }, { "id": "rs150020128", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150020128#frequency_tab" }, { "id": "rs150020128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150020128" }, { "id": "rs150020128", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150020128" } ], "glycoeffect": [], "start_pos": 3463, "end_pos": 3463, "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097337", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3463", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs532844048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532844048" }, { "id": "rs532844048", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532844048" }, { "id": "rs532844048", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532844048#frequency_tab" }, { "id": "rs532844048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532844048" } ], "glycoeffect": [], "start_pos": 3463, "end_pos": 3463, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097335", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3463, "end_pos": 3463, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097336", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K3463", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs780317902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780317902" }, { "id": "rs780317902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780317902" }, { "id": "rs780317902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780317902" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3464, "end_pos": 3464, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097334", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3464", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs375501810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375501810" }, { "id": "rs375501810", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375501810" }, { "id": "rs375501810", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375501810#frequency_tab" }, { "id": "rs375501810", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375501810" }, { "id": "rs375501810", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375501810" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3464, "end_pos": 3464, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097333", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3464", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1363762131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363762131" }, { "id": "rs1363762131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1363762131#frequency_tab" }, { "id": "rs1363762131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363762131" }, { "id": "rs1363762131", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1363762131" } ], "glycoeffect": [], "start_pos": 3465, "end_pos": 3465, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097329", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F3465", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1225760645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225760645" }, { "id": "rs1225760645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225760645" } ], "glycoeffect": [], "start_pos": 3465, "end_pos": 3465, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097331", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147464577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147464577" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3466, "end_pos": 3466, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097327", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3466", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1596501072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596501072" }, { "id": "rs1596501072", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596501072" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3466, "end_pos": 3466, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097328", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3466", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147464577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147464577" }, { "id": "rs147464577", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147464577" }, { "id": "rs147464577", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147464577#frequency_tab" }, { "id": "rs147464577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147464577" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3466, "end_pos": 3466, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097327", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3466", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3466, "end_pos": 3466, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097328", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3466", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1347130481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347130481" }, { "id": "rs1347130481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347130481" } ], "glycoeffect": [], "start_pos": 3467, "end_pos": 3467, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097325", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347130481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347130481" }, { "id": "rs1347130481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347130481" } ], "glycoeffect": [], "start_pos": 3467, "end_pos": 3467, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097325", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144590217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144590217" }, { "id": "rs144590217", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144590217" }, { "id": "rs144590217", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144590217" }, { "id": "rs144590217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144590217#frequency_tab" }, { "id": "rs144590217", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144590217" } ], "glycoeffect": [], "start_pos": 3467, "end_pos": 3467, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097324", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00156986", "site_lbl": "A3467", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373139880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373139880" }, { "id": "rs373139880", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373139880#frequency_tab" }, { "id": "rs373139880", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373139880" } ], "glycoeffect": [], "start_pos": 3469, "end_pos": 3469, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097240", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091885297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091885297" }, { "id": "rs2091885297", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091885297#frequency_tab" } ], "glycoeffect": [], "start_pos": 3469, "end_pos": 3469, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097241", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333245109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333245109" }, { "id": "rs1333245109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333245109" } ], "glycoeffect": [], "start_pos": 3469, "end_pos": 3469, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097319", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3469", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286213586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286213586" }, { "id": "rs1286213586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286213586" } ], "glycoeffect": [], "start_pos": 3470, "end_pos": 3470, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097238", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3470", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs936900782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936900782" }, { "id": "rs936900782", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs936900782#frequency_tab" } ], "glycoeffect": [], "start_pos": 3471, "end_pos": 3471, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097234", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408934300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408934300" }, { "id": "rs1408934300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408934300" } ], "glycoeffect": [], "start_pos": 3471, "end_pos": 3471, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097236", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs925526094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925526094" }, { "id": "rs925526094", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs925526094#frequency_tab" }, { "id": "rs925526094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs925526094" } ], "glycoeffect": [], "start_pos": 3472, "end_pos": 3472, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097233", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3472", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091884870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091884870" }, { "id": "rs2091884870", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091884870#frequency_tab" } ], "glycoeffect": [], "start_pos": 3473, "end_pos": 3473, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097228", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3473", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1567164013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567164013" } ], "glycoeffect": [], "start_pos": 3473, "end_pos": 3473, "sequence_org": "I", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097228_2097230deli", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I3473", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1064794206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1064794206" }, { "id": "rs1064794206", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1064794206" } ], "glycoeffect": [], "start_pos": 3474, "end_pos": 3474, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097227", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3474", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs759657491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759657491" }, { "id": "rs759657491", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759657491" }, { "id": "rs759657491", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759657491#frequency_tab" }, { "id": "rs759657491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759657491" } ], "glycoeffect": [], "start_pos": 3474, "end_pos": 3474, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097226", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759657491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759657491" }, { "id": "rs759657491", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759657491" }, { "id": "rs759657491", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759657491#frequency_tab" }, { "id": "rs759657491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759657491" } ], "glycoeffect": [], "start_pos": 3474, "end_pos": 3474, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097226", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3474", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544685880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544685880" } ], "glycoeffect": [], "start_pos": 3475, "end_pos": 3475, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3475", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1456606682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1456606682" }, { "id": "rs1456606682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1456606682" } ], "glycoeffect": [], "start_pos": 3475, "end_pos": 3475, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097222", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3475", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776616291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776616291" }, { "id": "rs776616291", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776616291" }, { "id": "rs776616291", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776616291#frequency_tab" }, { "id": "rs776616291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776616291" } ], "glycoeffect": [], "start_pos": 3476, "end_pos": 3476, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097221", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776616291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776616291" }, { "id": "rs776616291", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776616291" }, { "id": "rs776616291", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776616291#frequency_tab" }, { "id": "rs776616291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776616291" } ], "glycoeffect": [], "start_pos": 3476, "end_pos": 3476, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097221", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3476", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs776616291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776616291" }, { "id": "rs776616291", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776616291" }, { "id": "rs776616291", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776616291#frequency_tab" }, { "id": "rs776616291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776616291" } ], "glycoeffect": [], "start_pos": 3476, "end_pos": 3476, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097221", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs62621452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62621452" }, { "id": "rs62621452", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62621452" }, { "id": "rs62621452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62621452" }, { "id": "rs62621452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62621452#frequency_tab" }, { "id": "rs62621452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62621452" } ], "glycoeffect": [], "start_pos": 3477, "end_pos": 3477, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097218", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L3477", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs62621452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62621452" }, { "id": "rs62621452", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62621452" }, { "id": "rs62621452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62621452" }, { "id": "rs62621452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62621452#frequency_tab" }, { "id": "rs62621452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62621452" } ], "glycoeffect": [], "start_pos": 3477, "end_pos": 3477, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097218", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L3477", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs62621452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62621452" }, { "id": "rs62621452", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62621452" }, { "id": "rs62621452", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62621452" }, { "id": "rs62621452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62621452#frequency_tab" }, { "id": "rs62621452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62621452" } ], "glycoeffect": [], "start_pos": 3477, "end_pos": 3477, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097218", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L3477", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410468563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410468563" }, { "id": "rs1410468563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410468563" } ], "glycoeffect": [], "start_pos": 3478, "end_pos": 3478, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097215", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544685787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544685787" } ], "glycoeffect": [], "start_pos": 3478, "end_pos": 3478, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097214", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3478", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs779460999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779460999" }, { "id": "rs779460999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779460999" }, { "id": "rs779460999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779460999#frequency_tab" }, { "id": "rs779460999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779460999" } ], "glycoeffect": [], "start_pos": 3479, "end_pos": 3479, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097212", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755501121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755501121" }, { "id": "rs755501121", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755501121" }, { "id": "rs755501121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755501121#frequency_tab" }, { "id": "rs755501121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755501121" } ], "glycoeffect": [], "start_pos": 3479, "end_pos": 3479, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097210", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs779460999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779460999" }, { "id": "rs779460999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779460999" }, { "id": "rs779460999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779460999#frequency_tab" }, { "id": "rs779460999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779460999" }, { "id": "rs779460999", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779460999" } ], "glycoeffect": [], "start_pos": 3479, "end_pos": 3479, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097212", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3479", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2092667095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092667095" }, { "id": "rs2092667095", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092667095#frequency_tab" }, { "id": "rs2092667095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092667095" } ], "glycoeffect": [], "start_pos": 347, "end_pos": 347, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G347", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567217194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567217194" } ], "glycoeffect": [], "start_pos": 347, "end_pos": 347, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117948_2117954", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G347", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091884337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091884337" }, { "id": "rs2091884337", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091884337" } ], "glycoeffect": [], "start_pos": 3480, "end_pos": 3480, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3480", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1330426604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330426604" }, { "id": "rs1330426604", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330426604" } ], "glycoeffect": [], "start_pos": 3481, "end_pos": 3481, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3481", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091884240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091884240" } ], "glycoeffect": [], "start_pos": 3481, "end_pos": 3481, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097210", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3481", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2091884080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091884080" }, { "id": "rs2091884080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091884080#frequency_tab" }, { "id": "rs2091884080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2091884080" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3482, "end_pos": 3482, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097202", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3482", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370702171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370702171" }, { "id": "rs370702171", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370702171" }, { "id": "rs370702171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370702171" }, { "id": "rs370702171", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370702171#frequency_tab" }, { "id": "rs370702171", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370702171" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3483, "end_pos": 3483, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097200", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S3483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370702171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370702171" }, { "id": "rs370702171", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370702171" }, { "id": "rs370702171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370702171" }, { "id": "rs370702171", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370702171#frequency_tab" }, { "id": "rs370702171", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370702171" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3483, "end_pos": 3483, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097200", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S3483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376191704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376191704" }, { "id": "rs1376191704", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1376191704" } ], "glycoeffect": [], "start_pos": 3483, "end_pos": 3483, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097199", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1266100711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266100711" }, { "id": "rs1266100711", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1266100711#frequency_tab" }, { "id": "rs1266100711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1266100711" } ], "glycoeffect": [], "start_pos": 3484, "end_pos": 3484, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097197", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs982852486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982852486" }, { "id": "rs982852486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs982852486#frequency_tab" }, { "id": "rs982852486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs982852486" } ], "glycoeffect": [], "start_pos": 3484, "end_pos": 3484, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs982852486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982852486" }, { "id": "rs982852486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs982852486#frequency_tab" }, { "id": "rs982852486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs982852486" } ], "glycoeffect": [], "start_pos": 3484, "end_pos": 3484, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097196", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091883615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091883615" }, { "id": "rs2091883615", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091883615" } ], "glycoeffect": [], "start_pos": 3485, "end_pos": 3485, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097194", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3485", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1033455039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033455039" }, { "id": "rs1033455039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033455039#frequency_tab" }, { "id": "rs1033455039", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1033455039" } ], "glycoeffect": [], "start_pos": 3485, "end_pos": 3485, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097193", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3485", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151725680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151725680" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3487, "end_pos": 3487, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097188", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3487", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1385274120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385274120" }, { "id": "rs1385274120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385274120" } ], "glycoeffect": [], "start_pos": 3488, "end_pos": 3488, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097185", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3488", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1385274120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385274120" }, { "id": "rs1385274120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385274120" } ], "glycoeffect": [], "start_pos": 3488, "end_pos": 3488, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097185", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091883381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091883381" } ], "glycoeffect": [], "start_pos": 3488, "end_pos": 3488, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097187", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3488", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs763857434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763857434" }, { "id": "rs763857434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763857434" }, { "id": "rs763857434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763857434" } ], "glycoeffect": [], "start_pos": 3489, "end_pos": 3489, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091883211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091883211" }, { "id": "rs2091883211", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091883211#frequency_tab" } ], "glycoeffect": [], "start_pos": 3489, "end_pos": 3489, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097181", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3489", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1942071913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942071913" }, { "id": "rs1942071913", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1942071913#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 348, "end_pos": 348, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117949", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1289506902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289506902" }, { "id": "rs1289506902", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289506902#frequency_tab" }, { "id": "rs1289506902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289506902" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3490, "end_pos": 3490, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097179", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151725613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151725613" }, { "id": "rs2151725613", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151725613" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3490, "end_pos": 3490, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097178", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3491, "end_pos": 3491, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2097176", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H3491", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1386551818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386551818" }, { "id": "rs1386551818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386551818" } ], "glycoeffect": [], "start_pos": 3492, "end_pos": 3492, "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097172", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091882999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091882999" }, { "id": "rs2091882999", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091882999#frequency_tab" } ], "glycoeffect": [], "start_pos": 3492, "end_pos": 3492, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097173", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M3492", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091882875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091882875" }, { "id": "rs2091882875", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091882875" } ], "glycoeffect": [], "start_pos": 3493, "end_pos": 3493, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758257102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758257102" }, { "id": "rs758257102", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758257102" }, { "id": "rs758257102", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758257102#frequency_tab" }, { "id": "rs758257102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758257102" } ], "glycoeffect": [], "start_pos": 3493, "end_pos": 3493, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097170", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3493", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752503970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752503970" }, { "id": "rs752503970", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752503970" }, { "id": "rs752503970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752503970#frequency_tab" }, { "id": "rs752503970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752503970" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3494, "end_pos": 3494, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097166", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3494", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs752503970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752503970" }, { "id": "rs752503970", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752503970" }, { "id": "rs752503970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752503970#frequency_tab" }, { "id": "rs752503970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752503970" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3494, "end_pos": 3494, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097166", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3494", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs200408375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200408375" }, { "id": "rs200408375", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200408375" }, { "id": "rs200408375", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200408375" }, { "id": "rs200408375", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200408375#frequency_tab" }, { "id": "rs200408375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200408375" } ], "glycoeffect": [], "start_pos": 3495, "end_pos": 3495, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097162", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D3495", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs952446920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952446920" }, { "id": "rs952446920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952446920#frequency_tab" }, { "id": "rs952446920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs952446920" } ], "glycoeffect": [], "start_pos": 3496, "end_pos": 3496, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097161", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs952446920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952446920" }, { "id": "rs952446920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952446920#frequency_tab" }, { "id": "rs952446920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs952446920" } ], "glycoeffect": [], "start_pos": 3496, "end_pos": 3496, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097161", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555448106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555448106" } ], "glycoeffect": [], "start_pos": 3496, "end_pos": 3496, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097160", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3496", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs759443104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759443104" }, { "id": "rs759443104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759443104" }, { "id": "rs759443104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759443104" } ], "glycoeffect": [], "start_pos": 3497, "end_pos": 3497, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097158", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs560759027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560759027" }, { "id": "rs560759027", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs560759027" }, { "id": "rs560759027", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs560759027" }, { "id": "rs560759027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs560759027" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3498, "end_pos": 3498, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S3498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866747507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866747507" }, { "id": "rs866747507", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866747507" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3499, "end_pos": 3499, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2097151", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751089114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751089114" }, { "id": "rs751089114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751089114" }, { "id": "rs751089114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751089114" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117947", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159090218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159090218" }, { "id": "rs1159090218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159090218#frequency_tab" } ], "glycoeffect": [], "start_pos": 34, "end_pos": 34, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135590", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771730563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771730563" }, { "id": "rs771730563", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771730563" }, { "id": "rs771730563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771730563" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3501, "end_pos": 3501, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094209", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274109307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274109307" }, { "id": "rs1274109307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274109307" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3502, "end_pos": 3502, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094206", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3502", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs775155015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775155015" }, { "id": "rs775155015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775155015" }, { "id": "rs775155015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775155015" }, { "id": "rs775155015", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775155015" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3502, "end_pos": 3502, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094205", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3502", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs778633274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778633274" }, { "id": "rs778633274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778633274" }, { "id": "rs778633274", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778633274#frequency_tab" }, { "id": "rs778633274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778633274" } ], "glycoeffect": [], "start_pos": 3503, "end_pos": 3503, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094203", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1336937195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336937195" }, { "id": "rs1336937195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1336937195#frequency_tab" }, { "id": "rs1336937195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336937195" } ], "glycoeffect": [], "start_pos": 3504, "end_pos": 3504, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094199", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3504", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244664166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244664166" }, { "id": "rs1244664166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244664166#frequency_tab" }, { "id": "rs1244664166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244664166" }, { "id": "rs1244664166", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1244664166" } ], "glycoeffect": [], "start_pos": 3504, "end_pos": 3504, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094200", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3504", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1350256509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350256509" }, { "id": "rs1350256509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350256509" } ], "glycoeffect": [], "start_pos": 3505, "end_pos": 3505, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094196", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754669598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754669598" }, { "id": "rs754669598", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754669598" }, { "id": "rs754669598", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754669598" } ], "glycoeffect": [], "start_pos": 3505, "end_pos": 3505, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094197", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1350256509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350256509" }, { "id": "rs1350256509", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350256509" } ], "glycoeffect": [], "start_pos": 3505, "end_pos": 3505, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754669598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754669598" }, { "id": "rs754669598", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754669598" }, { "id": "rs754669598", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754669598" } ], "glycoeffect": [], "start_pos": 3505, "end_pos": 3505, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094197", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151710519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151710519" } ], "glycoeffect": [], "start_pos": 3506, "end_pos": 3506, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094197", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3506", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs779961497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779961497" }, { "id": "rs779961497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779961497" }, { "id": "rs779961497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779961497" } ], "glycoeffect": [], "start_pos": 3507, "end_pos": 3507, "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094191", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756083543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756083543" }, { "id": "rs756083543", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756083543" }, { "id": "rs756083543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756083543" } ], "glycoeffect": [], "start_pos": 3507, "end_pos": 3507, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094190", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756083543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756083543" }, { "id": "rs756083543", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756083543" }, { "id": "rs756083543", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756083543" } ], "glycoeffect": [], "start_pos": 3507, "end_pos": 3507, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094190", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3507", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091741468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091741468" }, { "id": "rs2091741468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091741468#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3508, "end_pos": 3508, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094187", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3508", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412548545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412548545" }, { "id": "rs1412548545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412548545" }, { "id": "rs1412548545", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1412548545" } ], "glycoeffect": [], "start_pos": 3509, "end_pos": 3509, "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3509", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2151710478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151710478" }, { "id": "rs1378307448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378307448" }, { "id": "rs2091741402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091741402" } ], "glycoeffect": [], "start_pos": 3509, "end_pos": 3509, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094186", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3509", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1221027872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221027872" }, { "id": "rs1221027872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221027872#frequency_tab" }, { "id": "rs1221027872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221027872" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1221027872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221027872" }, { "id": "rs1221027872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1221027872#frequency_tab" }, { "id": "rs1221027872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221027872" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117944", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V350", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs45478794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45478794" }, { "id": "rs45478794", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45478794" }, { "id": "rs45478794", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45478794" }, { "id": "rs45478794", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs45478794#frequency_tab" }, { "id": "rs45478794", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs45478794" }, { "id": "rs45478794", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45478794" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3510, "end_pos": 3510, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094181", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T3510", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs374486053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374486053" }, { "id": "rs374486053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374486053" }, { "id": "rs374486053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374486053#frequency_tab" }, { "id": "rs374486053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374486053" } ], "glycoeffect": [], "start_pos": 3511, "end_pos": 3511, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094178", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3511", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs141946034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141946034" }, { "id": "rs141946034", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141946034" }, { "id": "rs141946034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141946034#frequency_tab" }, { "id": "rs141946034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141946034" }, { "id": "rs141946034", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141946034" } ], "glycoeffect": [], "start_pos": 3511, "end_pos": 3511, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094179", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L3511", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs34197769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34197769" }, { "id": "rs34197769", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34197769" }, { "id": "rs34197769", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34197769" }, { "id": "rs34197769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34197769#frequency_tab" }, { "id": "rs34197769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34197769" }, { "id": "rs34197769", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34197769" } ], "glycoeffect": [], "start_pos": 3512, "end_pos": 3512, "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094175", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3512", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs765817540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765817540" }, { "id": "rs765817540", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765817540" }, { "id": "rs765817540", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765817540#frequency_tab" }, { "id": "rs765817540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765817540" } ], "glycoeffect": [], "start_pos": 3513, "end_pos": 3513, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765817540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765817540" }, { "id": "rs765817540", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765817540" }, { "id": "rs765817540", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765817540#frequency_tab" }, { "id": "rs765817540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765817540" } ], "glycoeffect": [], "start_pos": 3513, "end_pos": 3513, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094173", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3513", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567159623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567159623" }, { "id": "rs1567159623", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567159623" } ], "glycoeffect": [], "start_pos": 3514, "end_pos": 3514, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094170", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567159623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567159623" }, { "id": "rs1567159623", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567159623" } ], "glycoeffect": [], "start_pos": 3514, "end_pos": 3514, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094170", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1296893754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296893754" }, { "id": "rs1296893754", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1296893754" } ], "glycoeffect": [], "start_pos": 3514, "end_pos": 3514, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091740262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091740262" }, { "id": "rs2091740262", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091740262" } ], "glycoeffect": [], "start_pos": 3514, "end_pos": 3514, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094169", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270501606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270501606" }, { "id": "rs1270501606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270501606" } ], "glycoeffect": [], "start_pos": 3515, "end_pos": 3515, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094166", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3515", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151710347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151710347" } ], "glycoeffect": [], "start_pos": 3515, "end_pos": 3515, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094169", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3515", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs777312051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777312051" }, { "id": "rs777312051", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777312051" }, { "id": "rs777312051", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777312051#frequency_tab" }, { "id": "rs777312051", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777312051" }, { "id": "rs777312051", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777312051" } ], "glycoeffect": [], "start_pos": 3516, "end_pos": 3516, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094164", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L3516", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2151710316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151710316" } ], "glycoeffect": [], "start_pos": 3516, "end_pos": 3516, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094165_2094166insT", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3516", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1283471042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283471042" }, { "id": "rs1283471042", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1283471042#frequency_tab" } ], "glycoeffect": [], "start_pos": 3517, "end_pos": 3517, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094161", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332528470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332528470" }, { "id": "rs1332528470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332528470" } ], "glycoeffect": [], "start_pos": 3518, "end_pos": 3518, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094156", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771418815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771418815" }, { "id": "rs771418815", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771418815" }, { "id": "rs771418815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771418815" } ], "glycoeffect": [], "start_pos": 3518, "end_pos": 3518, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094157", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs889458476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs889458476" }, { "id": "rs889458476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs889458476#frequency_tab" }, { "id": "rs889458476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs889458476" } ], "glycoeffect": [], "start_pos": 3518, "end_pos": 3518, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094158", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567159386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567159386" } ], "glycoeffect": [], "start_pos": 3518, "end_pos": 3518, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094128_2094161", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3518", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092666943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092666943" }, { "id": "rs2092666943", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092666943#frequency_tab" } ], "glycoeffect": [], "start_pos": 351, "end_pos": 351, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773860404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773860404" }, { "id": "rs773860404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773860404" }, { "id": "rs773860404", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773860404#frequency_tab" }, { "id": "rs773860404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773860404" } ], "glycoeffect": [], "start_pos": 3521, "end_pos": 3521, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094148", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3521", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091738900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091738900" }, { "id": "rs2091738900", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091738900" } ], "glycoeffect": [], "start_pos": 3521, "end_pos": 3521, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094149", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3521", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555447196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555447196" } ], "glycoeffect": [], "start_pos": 3521, "end_pos": 3521, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094153", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3521", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1410918554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410918554" }, { "id": "rs1410918554", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410918554" } ], "glycoeffect": [], "start_pos": 3522, "end_pos": 3522, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094145", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768421958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768421958" }, { "id": "rs768421958", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768421958" }, { "id": "rs768421958", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768421958#frequency_tab" }, { "id": "rs768421958", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768421958" } ], "glycoeffect": [], "start_pos": 3522, "end_pos": 3522, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094146", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091738300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091738300" }, { "id": "rs2091738300", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091738300#frequency_tab" }, { "id": "rs2091738300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2091738300" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3523, "end_pos": 3523, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094143", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3523", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567159486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567159486" }, { "id": "rs1567159486", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567159486" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3523, "end_pos": 3523, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094141", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3523", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544654552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544654552" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3523, "end_pos": 3523, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094143_2094147", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3523", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2091738105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091738105" }, { "id": "rs2091738105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091738105#frequency_tab" } ], "glycoeffect": [], "start_pos": 3524, "end_pos": 3524, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094139", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3524", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs114523369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114523369" }, { "id": "rs114523369", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs114523369" }, { "id": "rs114523369", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114523369" }, { "id": "rs114523369", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs114523369#frequency_tab" }, { "id": "rs114523369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs114523369" } ], "glycoeffect": [], "start_pos": 3525, "end_pos": 3525, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094136", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479119612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479119612" }, { "id": "rs1479119612", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479119612" } ], "glycoeffect": [], "start_pos": 3525, "end_pos": 3525, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094137", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs114523369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114523369" }, { "id": "rs114523369", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs114523369" }, { "id": "rs114523369", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs114523369" }, { "id": "rs114523369", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs114523369#frequency_tab" }, { "id": "rs114523369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs114523369" } ], "glycoeffect": [], "start_pos": 3525, "end_pos": 3525, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094136", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198427031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198427031" }, { "id": "rs1198427031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1198427031#frequency_tab" }, { "id": "rs1198427031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198427031" } ], "glycoeffect": [], "start_pos": 3526, "end_pos": 3526, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094133", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3526", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250005132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250005132" }, { "id": "rs1250005132", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250005132" } ], "glycoeffect": [], "start_pos": 3527, "end_pos": 3527, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094131", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3527", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3527, "end_pos": 3527, "subjects_tested": "606", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094129", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N3527", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1057516041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516041" }, { "id": "rs1057516041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057516041" } ], "glycoeffect": [], "start_pos": 3528, "end_pos": 3528, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094127", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3528", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1057516041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516041" }, { "id": "rs1057516041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057516041" } ], "glycoeffect": [], "start_pos": 3528, "end_pos": 3528, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094127", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781108645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781108645" }, { "id": "rs781108645", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781108645" }, { "id": "rs781108645", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781108645" } ], "glycoeffect": [], "start_pos": 3528, "end_pos": 3528, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094128", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3529, "end_pos": 3529, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094125", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3529", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2091737345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091737345" }, { "id": "rs2091737345", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091737345" } ], "glycoeffect": [], "start_pos": 3529, "end_pos": 3529, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094125", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3529", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 352, "end_pos": 352, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2117938", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V352", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1596490025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596490025" }, { "id": "rs1596490025", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596490025" } ], "glycoeffect": [], "start_pos": 3530, "end_pos": 3530, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094122", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q3530", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1343320685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1343320685" }, { "id": "rs1343320685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1343320685" } ], "glycoeffect": [], "start_pos": 3530, "end_pos": 3530, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094120", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1221238377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221238377" }, { "id": "rs1221238377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221238377" } ], "glycoeffect": [], "start_pos": 3530, "end_pos": 3530, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094121", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232105448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232105448" }, { "id": "rs1232105448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232105448" } ], "glycoeffect": [], "start_pos": 3531, "end_pos": 3531, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094118", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757273158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757273158" }, { "id": "rs757273158", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757273158" }, { "id": "rs757273158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757273158" } ], "glycoeffect": [], "start_pos": 3531, "end_pos": 3531, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094119", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751730287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751730287" }, { "id": "rs751730287", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751730287" }, { "id": "rs751730287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751730287" } ], "glycoeffect": [], "start_pos": 3532, "end_pos": 3532, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094116", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758698789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758698789" }, { "id": "rs758698789", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758698789" }, { "id": "rs758698789", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758698789#frequency_tab" }, { "id": "rs758698789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758698789" } ], "glycoeffect": [], "start_pos": 3532, "end_pos": 3532, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094114", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544654195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544654195" } ], "glycoeffect": [], "start_pos": 3532, "end_pos": 3532, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094116_2094137", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q3532", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs752991611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752991611" }, { "id": "rs752991611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752991611" }, { "id": "rs752991611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752991611#frequency_tab" }, { "id": "rs752991611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752991611" } ], "glycoeffect": [], "start_pos": 3533, "end_pos": 3533, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094112", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3533", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3533, "end_pos": 3533, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094113", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3533", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765657892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765657892" }, { "id": "rs765657892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765657892" }, { "id": "rs765657892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765657892" } ], "glycoeffect": [], "start_pos": 3534, "end_pos": 3534, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094110", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765657892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765657892" }, { "id": "rs765657892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765657892" }, { "id": "rs765657892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765657892" } ], "glycoeffect": [], "start_pos": 3534, "end_pos": 3534, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094110", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550305727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550305727" }, { "id": "rs550305727", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550305727" }, { "id": "rs550305727", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550305727" }, { "id": "rs550305727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs550305727#frequency_tab" }, { "id": "rs550305727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550305727" } ], "glycoeffect": [], "start_pos": 3534, "end_pos": 3534, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094109", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A3534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761222928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761222928" }, { "id": "rs761222928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761222928" }, { "id": "rs761222928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761222928" } ], "glycoeffect": [], "start_pos": 3535, "end_pos": 3535, "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094106", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs978829654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978829654" }, { "id": "rs978829654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs978829654#frequency_tab" }, { "id": "rs978829654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978829654" } ], "glycoeffect": [], "start_pos": 3535, "end_pos": 3535, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094105", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761222928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761222928" } ], "glycoeffect": [], "start_pos": 3535, "end_pos": 3535, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094106", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091736263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091736263" }, { "id": "rs2091736263", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2091736263" } ], "glycoeffect": [], "start_pos": 3536, "end_pos": 3536, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094103", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3536", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773951174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773951174" }, { "id": "rs773951174", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773951174" }, { "id": "rs773951174", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773951174" } ], "glycoeffect": [], "start_pos": 3538, "end_pos": 3538, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186829864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186829864" }, { "id": "rs1186829864", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186829864#frequency_tab" }, { "id": "rs1186829864", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186829864" } ], "glycoeffect": [], "start_pos": 3538, "end_pos": 3538, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094096", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092666922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092666922" }, { "id": "rs2092666922", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092666922#frequency_tab" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117934", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201409107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201409107" }, { "id": "rs201409107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201409107" }, { "id": "rs201409107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201409107#frequency_tab" }, { "id": "rs201409107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201409107" }, { "id": "rs201409107", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201409107" } ], "glycoeffect": [], "start_pos": 3540, "end_pos": 3540, "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094013", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3540", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs201409107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201409107" }, { "id": "rs201409107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201409107" }, { "id": "rs201409107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201409107#frequency_tab" }, { "id": "rs201409107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201409107" } ], "glycoeffect": [], "start_pos": 3540, "end_pos": 3540, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094013", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3540, "end_pos": 3540, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2094092", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3540", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769506635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769506635" }, { "id": "rs769506635", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769506635" }, { "id": "rs769506635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769506635" } ], "glycoeffect": [], "start_pos": 3541, "end_pos": 3541, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094010", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775062482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775062482" }, { "id": "rs775062482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775062482" }, { "id": "rs775062482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775062482" } ], "glycoeffect": [], "start_pos": 3541, "end_pos": 3541, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094011", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759298482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759298482" }, { "id": "rs759298482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759298482" }, { "id": "rs759298482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759298482" } ], "glycoeffect": [], "start_pos": 3543, "end_pos": 3543, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094003", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs997241120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs997241120" }, { "id": "rs997241120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs997241120#frequency_tab" }, { "id": "rs997241120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs997241120" } ], "glycoeffect": [], "start_pos": 3543, "end_pos": 3543, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094005", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3543", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1473752145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473752145" }, { "id": "rs1473752145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1473752145" } ], "glycoeffect": [], "start_pos": 3544, "end_pos": 3544, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094001", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3544", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544652344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544652344" } ], "glycoeffect": [], "start_pos": 3544, "end_pos": 3544, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2094002", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3544", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250090197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250090197" }, { "id": "rs1250090197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250090197" } ], "glycoeffect": [], "start_pos": 3545, "end_pos": 3545, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093999", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs746925335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746925335" }, { "id": "rs746925335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746925335" }, { "id": "rs746925335", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746925335#frequency_tab" }, { "id": "rs746925335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746925335" } ], "glycoeffect": [], "start_pos": 3546, "end_pos": 3546, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093995", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3546", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs763125659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763125659" }, { "id": "rs763125659", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763125659" }, { "id": "rs763125659", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763125659#frequency_tab" }, { "id": "rs763125659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763125659" } ], "glycoeffect": [], "start_pos": 3546, "end_pos": 3546, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093996", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1319417140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319417140" }, { "id": "rs1319417140", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319417140" } ], "glycoeffect": [], "start_pos": 3547, "end_pos": 3547, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093991", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs2859787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2859787" }, { "id": "rs2859787", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2859787" }, { "id": "rs2859787", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2859787" }, { "id": "rs2859787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2859787#frequency_tab" }, { "id": "rs2859787", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2859787" } ], "glycoeffect": [], "start_pos": 3548, "end_pos": 3548, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093990", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R3548", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2859787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2859787" }, { "id": "rs2859787", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2859787" }, { "id": "rs2859787", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2859787" }, { "id": "rs2859787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2859787#frequency_tab" }, { "id": "rs2859787", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2859787" } ], "glycoeffect": [], "start_pos": 3548, "end_pos": 3548, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093990", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R3548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs62624465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62624465" }, { "id": "rs62624465", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62624465" }, { "id": "rs62624465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62624465" }, { "id": "rs62624465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62624465#frequency_tab" }, { "id": "rs62624465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62624465" } ], "glycoeffect": [], "start_pos": 3548, "end_pos": 3548, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093989", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R3548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544652179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544652179" } ], "glycoeffect": [], "start_pos": 3549, "end_pos": 3549, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093986", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286272656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286272656" }, { "id": "rs1286272656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286272656" } ], "glycoeffect": [], "start_pos": 3549, "end_pos": 3549, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093987", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3549", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763558103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558103" }, { "id": "rs763558103", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763558103" }, { "id": "rs763558103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558103" }, { "id": "rs763558103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763558103#frequency_tab" }, { "id": "rs763558103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763558103" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117931", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763558103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558103" }, { "id": "rs763558103", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763558103" }, { "id": "rs763558103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763558103" }, { "id": "rs763558103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763558103#frequency_tab" }, { "id": "rs763558103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763558103" }, { "id": "rs763558103", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763558103" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A354", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs779271659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779271659" }, { "id": "rs779271659", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779271659" }, { "id": "rs779271659", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779271659#frequency_tab" }, { "id": "rs779271659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779271659" } ], "glycoeffect": [], "start_pos": 3551, "end_pos": 3551, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093980", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3551", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs141670808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141670808" }, { "id": "rs141670808", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141670808" }, { "id": "rs141670808", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141670808" }, { "id": "rs141670808", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141670808#frequency_tab" }, { "id": "rs141670808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141670808" } ], "glycoeffect": [], "start_pos": 3552, "end_pos": 3552, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093978", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A3552", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1321748065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321748065" }, { "id": "rs1321748065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321748065" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093974", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780417019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780417019" }, { "id": "rs780417019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780417019" }, { "id": "rs780417019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780417019#frequency_tab" }, { "id": "rs780417019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780417019" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093973", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349398113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349398113" }, { "id": "rs1349398113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1349398113#frequency_tab" }, { "id": "rs1349398113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349398113" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093975", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321748065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321748065" }, { "id": "rs1321748065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321748065" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093974", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1349398113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1349398113" }, { "id": "rs1349398113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1349398113#frequency_tab" }, { "id": "rs1349398113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1349398113" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093975", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555447057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555447057" } ], "glycoeffect": [], "start_pos": 3553, "end_pos": 3553, "sequence_org": "W", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093974", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3553", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs756463775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756463775" }, { "id": "rs756463775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756463775" }, { "id": "rs756463775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756463775#frequency_tab" }, { "id": "rs756463775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756463775" } ], "glycoeffect": [], "start_pos": 3555, "end_pos": 3555, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093969", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750872411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750872411" }, { "id": "rs750872411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750872411" }, { "id": "rs750872411", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750872411#frequency_tab" }, { "id": "rs750872411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750872411" } ], "glycoeffect": [], "start_pos": 3555, "end_pos": 3555, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093968", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3555", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767919680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767919680" }, { "id": "rs767919680", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767919680" }, { "id": "rs767919680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767919680" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3556, "end_pos": 3556, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093965", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3556", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544651770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544651770" } ], "glycoeffect": [], "start_pos": 3557, "end_pos": 3557, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093962", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3557", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1425364379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425364379" }, { "id": "rs1425364379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1425364379#frequency_tab" }, { "id": "rs1425364379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1425364379" } ], "glycoeffect": [], "start_pos": 3558, "end_pos": 3558, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093959", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3558", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs978561599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978561599" }, { "id": "rs978561599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs978561599#frequency_tab" }, { "id": "rs978561599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978561599" } ], "glycoeffect": [], "start_pos": 3559, "end_pos": 3559, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091728081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091728081" }, { "id": "rs2091728081", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091728081" } ], "glycoeffect": [], "start_pos": 3559, "end_pos": 3559, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093956", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2117929", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "A355", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1303352586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303352586" }, { "id": "rs1303352586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303352586" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117929", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759143240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759143240" }, { "id": "rs759143240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759143240" }, { "id": "rs759143240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759143240" } ], "glycoeffect": [], "start_pos": 3560, "end_pos": 3560, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093953", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs79000340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79000340" }, { "id": "rs79000340", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79000340" }, { "id": "rs79000340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79000340" }, { "id": "rs79000340", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs79000340#frequency_tab" }, { "id": "rs79000340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79000340" }, { "id": "rs79000340", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79000340" } ], "glycoeffect": [], "start_pos": 3560, "end_pos": 3560, "subjects_tested": "606", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093954", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3560", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3560, "end_pos": 3560, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093953", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G3560", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs79000340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79000340" }, { "id": "rs79000340", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79000340" }, { "id": "rs79000340", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79000340" }, { "id": "rs79000340", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs79000340#frequency_tab" }, { "id": "rs79000340", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79000340" } ], "glycoeffect": [], "start_pos": 3560, "end_pos": 3560, "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093954", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1036770565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1036770565" }, { "id": "rs1036770565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1036770565#frequency_tab" }, { "id": "rs1036770565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1036770565" } ], "glycoeffect": [], "start_pos": 3561, "end_pos": 3561, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093951", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375275884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375275884" }, { "id": "rs375275884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375275884" }, { "id": "rs375275884", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375275884#frequency_tab" }, { "id": "rs375275884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375275884" } ], "glycoeffect": [], "start_pos": 3562, "end_pos": 3562, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093947", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3562", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138571055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138571055" }, { "id": "rs138571055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138571055#frequency_tab" }, { "id": "rs138571055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138571055" }, { "id": "rs138571055", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138571055" } ], "glycoeffect": [], "start_pos": 3564, "end_pos": 3564, "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093942", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3564", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2091727215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091727215" }, { "id": "rs2091727215", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091727215" } ], "glycoeffect": [], "start_pos": 3565, "end_pos": 3565, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093938", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3565", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3567, "end_pos": 3567, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093933", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3567", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2151708958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151708958" }, { "id": "rs2151708958", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151708958" } ], "glycoeffect": [], "start_pos": 3567, "end_pos": 3567, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093932", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772200851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772200851" }, { "id": "rs772200851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772200851" }, { "id": "rs772200851", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772200851#frequency_tab" }, { "id": "rs772200851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772200851" } ], "glycoeffect": [], "start_pos": 3568, "end_pos": 3568, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093930", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3568", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091726891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091726891" }, { "id": "rs2091726891", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091726891#frequency_tab" } ], "glycoeffect": [], "start_pos": 3569, "end_pos": 3569, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093926", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3569, "end_pos": 3569, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093927", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3569", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1282596340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282596340" }, { "id": "rs1282596340", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282596340#frequency_tab" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117925", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092666817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092666817" }, { "id": "rs2092666817", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092666817" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117926", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372278093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372278093" }, { "id": "rs372278093", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372278093" }, { "id": "rs372278093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372278093#frequency_tab" }, { "id": "rs372278093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372278093" } ], "glycoeffect": [], "start_pos": 3570, "end_pos": 3570, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093924", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3570", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372278093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372278093" }, { "id": "rs372278093", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372278093" }, { "id": "rs372278093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372278093#frequency_tab" }, { "id": "rs372278093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372278093" } ], "glycoeffect": [], "start_pos": 3570, "end_pos": 3570, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093924", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3570", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779183324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779183324" }, { "id": "rs779183324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779183324" }, { "id": "rs779183324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779183324#frequency_tab" }, { "id": "rs779183324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779183324" } ], "glycoeffect": [], "start_pos": 3571, "end_pos": 3571, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093920", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091726737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091726737" }, { "id": "rs2091726737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091726737#frequency_tab" } ], "glycoeffect": [], "start_pos": 3571, "end_pos": 3571, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093921", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779183324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779183324" }, { "id": "rs779183324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779183324" }, { "id": "rs779183324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779183324#frequency_tab" }, { "id": "rs779183324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779183324" } ], "glycoeffect": [], "start_pos": 3571, "end_pos": 3571, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093920", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3571", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544651236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544651236" } ], "glycoeffect": [], "start_pos": 3571, "end_pos": 3571, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093922", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3571", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs749481901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749481901" }, { "id": "rs749481901", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749481901" }, { "id": "rs749481901", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749481901#frequency_tab" }, { "id": "rs749481901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749481901" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3573, "end_pos": 3573, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093914", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567158719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567158719" }, { "id": "rs1567158719", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567158719" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3573, "end_pos": 3573, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3573", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091726234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091726234" }, { "id": "rs2091726234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091726234#frequency_tab" }, { "id": "rs2091726234", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2091726234" } ], "glycoeffect": [], "start_pos": 3574, "end_pos": 3574, "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093911", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3574", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2544651044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544651044" } ], "glycoeffect": [], "start_pos": 3574, "end_pos": 3574, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093912", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3574", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1361283193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361283193" }, { "id": "rs1361283193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361283193" }, { "id": "rs1177764199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177764199" }, { "id": "rs1177764199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177764199" } ], "glycoeffect": [], "start_pos": 3575, "end_pos": 3575, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093908", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3575", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1177764199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177764199" }, { "id": "rs1177764199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177764199" } ], "glycoeffect": [], "start_pos": 3575, "end_pos": 3575, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093907", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W3575", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091726045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091726045" }, { "id": "rs2091726045", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091726045" } ], "glycoeffect": [], "start_pos": 3575, "end_pos": 3575, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093909", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3575", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1483830437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483830437" }, { "id": "rs1483830437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483830437" } ], "glycoeffect": [], "start_pos": 3576, "end_pos": 3576, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093906", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3576", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151708812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151708812" } ], "glycoeffect": [], "start_pos": 3576, "end_pos": 3576, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093907_2093908", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3576", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2091725777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091725777" }, { "id": "rs2091725777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091725777#frequency_tab" } ], "glycoeffect": [], "start_pos": 3577, "end_pos": 3577, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093903", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3577", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091725600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091725600" }, { "id": "rs2091725600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091725600#frequency_tab" }, { "id": "rs2091725600", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2091725600" } ], "glycoeffect": [], "start_pos": 3578, "end_pos": 3578, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "NC_000016.10", "chr_pos": "2093900", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "1e-06", "site_lbl": "A3578", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs201209708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201209708" }, { "id": "rs201209708", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201209708" }, { "id": "rs201209708", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201209708" }, { "id": "rs201209708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201209708#frequency_tab" }, { "id": "rs201209708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201209708" } ], "glycoeffect": [], "start_pos": 3578, "end_pos": 3578, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093899", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A3578", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091725538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091725538" } ], "glycoeffect": [], "start_pos": 3578, "end_pos": 3578, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093899", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3578", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091725200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091725200" }, { "id": "rs2091725200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091725200#frequency_tab" }, { "id": "rs2091725200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2091725200" } ], "glycoeffect": [], "start_pos": 3580, "end_pos": 3580, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093893", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573630884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573630884" }, { "id": "rs573630884", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573630884" }, { "id": "rs573630884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573630884" }, { "id": "rs573630884", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs573630884#frequency_tab" }, { "id": "rs573630884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573630884" }, { "id": "rs1246049297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246049297" }, { "id": "rs1246049297", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1246049297#frequency_tab" }, { "id": "rs1246049297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246049297" } ], "glycoeffect": [], "start_pos": 3580, "end_pos": 3580, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093892", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091725200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091725200" }, { "id": "rs2091725200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091725200#frequency_tab" }, { "id": "rs2091725200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2091725200" } ], "glycoeffect": [], "start_pos": 3580, "end_pos": 3580, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3580", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376534606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376534606" }, { "id": "rs376534606", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376534606" }, { "id": "rs376534606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376534606#frequency_tab" }, { "id": "rs376534606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376534606" } ], "glycoeffect": [], "start_pos": 3581, "end_pos": 3581, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093890", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3581", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091725054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091725054" }, { "id": "rs2091725054", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091725054" } ], "glycoeffect": [], "start_pos": 3581, "end_pos": 3581, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093891", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3581", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs952576472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952576472" }, { "id": "rs952576472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952576472#frequency_tab" }, { "id": "rs952576472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs952576472" } ], "glycoeffect": [], "start_pos": 3582, "end_pos": 3582, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093887", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3582", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs952576472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952576472" }, { "id": "rs952576472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952576472#frequency_tab" }, { "id": "rs952576472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs952576472" } ], "glycoeffect": [], "start_pos": 3582, "end_pos": 3582, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093887", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3582", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3582, "end_pos": 3582, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093888", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3582", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752087551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752087551" }, { "id": "rs752087551", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752087551" }, { "id": "rs752087551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752087551#frequency_tab" }, { "id": "rs752087551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752087551" } ], "glycoeffect": [], "start_pos": 3583, "end_pos": 3583, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093884", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3583", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3583, "end_pos": 3583, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093885", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3583", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs752087551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752087551" }, { "id": "rs752087551", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752087551" }, { "id": "rs752087551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752087551#frequency_tab" }, { "id": "rs752087551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752087551" } ], "glycoeffect": [], "start_pos": 3583, "end_pos": 3583, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093884", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3583", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151708652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151708652" } ], "glycoeffect": [], "start_pos": 3583, "end_pos": 3583, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093886", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G3583", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs927844515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs927844515" }, { "id": "rs927844515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs927844515#frequency_tab" }, { "id": "rs927844515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs927844515" } ], "glycoeffect": [], "start_pos": 3584, "end_pos": 3584, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093882", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3584", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs927844515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs927844515" }, { "id": "rs927844515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs927844515#frequency_tab" }, { "id": "rs927844515", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs927844515" }, { "id": "rs927844515", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs927844515" } ], "glycoeffect": [], "start_pos": 3584, "end_pos": 3584, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093882", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V3584", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1555447011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555447011" } ], "glycoeffect": [], "start_pos": 3584, "end_pos": 3584, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093892", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3584", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2091724345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091724345" }, { "id": "rs2091724345", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091724345#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3585, "end_pos": 3585, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093879", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3585", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs186421561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186421561" }, { "id": "rs186421561", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186421561" }, { "id": "rs186421561", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186421561" }, { "id": "rs186421561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs186421561#frequency_tab" }, { "id": "rs186421561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs186421561" } ], "glycoeffect": [], "start_pos": 3586, "end_pos": 3586, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093876", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0", "site_lbl": "V3586", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753473169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753473169" }, { "id": "rs753473169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753473169" }, { "id": "rs753473169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753473169#frequency_tab" }, { "id": "rs753473169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753473169" } ], "glycoeffect": [], "start_pos": 3587, "end_pos": 3587, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093872", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295445879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295445879" }, { "id": "rs1295445879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295445879#frequency_tab" }, { "id": "rs1295445879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295445879" } ], "glycoeffect": [], "start_pos": 3587, "end_pos": 3587, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093873", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295445879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295445879" }, { "id": "rs1295445879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295445879#frequency_tab" }, { "id": "rs1295445879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295445879" } ], "glycoeffect": [], "start_pos": 3587, "end_pos": 3587, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093873", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1295445879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295445879" }, { "id": "rs1295445879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295445879#frequency_tab" }, { "id": "rs1295445879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295445879" } ], "glycoeffect": [], "start_pos": 3587, "end_pos": 3587, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093873", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3587", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs753473169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753473169" }, { "id": "rs753473169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753473169" }, { "id": "rs753473169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753473169#frequency_tab" }, { "id": "rs753473169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753473169" } ], "glycoeffect": [], "start_pos": 3587, "end_pos": 3587, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093872", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3587", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151708577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151708577" } ], "glycoeffect": [], "start_pos": 3588, "end_pos": 3588, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093868", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151708577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151708577" }, { "id": "rs2151708577", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151708577" } ], "glycoeffect": [], "start_pos": 3588, "end_pos": 3588, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093868", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301527382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301527382" }, { "id": "rs1301527382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301527382" } ], "glycoeffect": [], "start_pos": 3588, "end_pos": 3588, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093869", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W3588", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766006113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766006113" }, { "id": "rs766006113", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766006113" }, { "id": "rs766006113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766006113#frequency_tab" }, { "id": "rs766006113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766006113" } ], "glycoeffect": [], "start_pos": 3589, "end_pos": 3589, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093867", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766006113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766006113" }, { "id": "rs766006113", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766006113" }, { "id": "rs766006113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766006113#frequency_tab" }, { "id": "rs766006113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766006113" } ], "glycoeffect": [], "start_pos": 3589, "end_pos": 3589, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093867", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3589", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758035427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758035427" }, { "id": "rs758035427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758035427" }, { "id": "rs758035427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758035427#frequency_tab" }, { "id": "rs758035427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758035427" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117920", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs758035427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758035427" }, { "id": "rs758035427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758035427" }, { "id": "rs758035427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758035427#frequency_tab" }, { "id": "rs758035427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758035427" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2117920", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A358", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs116114803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116114803" }, { "id": "rs116114803", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116114803" }, { "id": "rs116114803", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116114803" }, { "id": "rs116114803", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116114803#frequency_tab" }, { "id": "rs116114803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116114803" } ], "glycoeffect": [], "start_pos": 3590, "end_pos": 3590, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093864", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0072606", "site_lbl": "L3590", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091723749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091723749" }, { "id": "rs2091723749", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091723749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3591, "end_pos": 3591, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3591", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2544650348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544650348" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3591, "end_pos": 3591, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093861", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3591", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2091723749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091723749" }, { "id": "rs2091723749", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091723749" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3591, "end_pos": 3591, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093860", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3591", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1431066682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431066682" }, { "id": "rs1431066682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431066682" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3592, "end_pos": 3592, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093858", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3592", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs772917917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772917917" }, { "id": "rs772917917", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772917917" }, { "id": "rs772917917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772917917" }, { "id": "rs772917917", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772917917" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3592, "end_pos": 3592, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093857", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3592", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1431066682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431066682" }, { "id": "rs1431066682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1431066682" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3592, "end_pos": 3592, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093858", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3592", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767538034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767538034" }, { "id": "rs767538034", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767538034" }, { "id": "rs767538034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767538034#frequency_tab" }, { "id": "rs767538034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767538034" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3593, "end_pos": 3593, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093854", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1258004081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258004081" }, { "id": "rs1258004081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258004081" } ], "glycoeffect": [], "start_pos": 3594, "end_pos": 3594, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093852", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3594", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1485228851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485228851" }, { "id": "rs1485228851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485228851" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3595, "end_pos": 3595, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093847", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3595", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2854581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2854581" }, { "id": "rs2854581", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2854581" } ], "glycoeffect": [], "start_pos": 3595, "end_pos": 3595, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093848", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252726886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252726886" }, { "id": "rs1252726886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252726886" } ], "glycoeffect": [], "start_pos": 3596, "end_pos": 3596, "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544650057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544650057" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3599, "end_pos": 3599, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093836", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3599", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1057524759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057524759" }, { "id": "rs1057524759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057524759" } ], "glycoeffect": [], "start_pos": 359, "end_pos": 359, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117917", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1007755475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007755475" }, { "id": "rs1007755475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1007755475#frequency_tab" }, { "id": "rs1007755475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007755475" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135586", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1007755475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007755475" }, { "id": "rs1007755475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1007755475#frequency_tab" }, { "id": "rs1007755475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007755475" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1016742393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1016742393" }, { "id": "rs1016742393", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1016742393" }, { "id": "rs1016742393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1016742393#frequency_tab" }, { "id": "rs1016742393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1016742393" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135587", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1016742393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1016742393" }, { "id": "rs1016742393", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1016742393" }, { "id": "rs1016742393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1016742393#frequency_tab" }, { "id": "rs1016742393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1016742393" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135587", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375959717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375959717" }, { "id": "rs375959717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375959717" }, { "id": "rs375959717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375959717#frequency_tab" }, { "id": "rs375959717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375959717" } ], "glycoeffect": [], "start_pos": 3600, "end_pos": 3600, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093832", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F3600", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769952764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769952764" }, { "id": "rs769952764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769952764" }, { "id": "rs769952764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769952764#frequency_tab" }, { "id": "rs769952764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769952764" } ], "glycoeffect": [], "start_pos": 3601, "end_pos": 3601, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093831", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544649965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544649965" } ], "glycoeffect": [], "start_pos": 3601, "end_pos": 3601, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093830", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3601", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs769952764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769952764" }, { "id": "rs769952764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769952764" }, { "id": "rs769952764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769952764#frequency_tab" }, { "id": "rs769952764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769952764" } ], "glycoeffect": [], "start_pos": 3601, "end_pos": 3601, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093831", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs781492044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781492044" }, { "id": "rs781492044", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781492044" }, { "id": "rs781492044", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781492044#frequency_tab" }, { "id": "rs781492044", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781492044" }, { "id": "rs781492044", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781492044" } ], "glycoeffect": [], "start_pos": 3602, "end_pos": 3602, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093828", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3602", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 3603, "end_pos": 3603, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093824", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "W3603", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2091722550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091722550" }, { "id": "rs2091722550", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091722550" } ], "glycoeffect": [], "start_pos": 3604, "end_pos": 3604, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093822", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3604", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs757653753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757653753" }, { "id": "rs757653753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757653753" }, { "id": "rs757653753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757653753#frequency_tab" }, { "id": "rs757653753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757653753" } ], "glycoeffect": [], "start_pos": 3606, "end_pos": 3606, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093816", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3606", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1057516200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516200" }, { "id": "rs1057516200", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1057516200" } ], "glycoeffect": [], "start_pos": 3606, "end_pos": 3606, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093815", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3606", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2151708378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151708378" }, { "id": "rs2151708378", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151708378" } ], "glycoeffect": [], "start_pos": 3607, "end_pos": 3607, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093813", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555446946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555446946" }, { "id": "rs1555446946", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555446946" } ], "glycoeffect": [], "start_pos": 3607, "end_pos": 3607, "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093812", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3607", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2091722144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091722144" }, { "id": "rs2091722144", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091722144" } ], "glycoeffect": [], "start_pos": 3607, "end_pos": 3607, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093811", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3607", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2091715477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091715477" }, { "id": "rs2091715477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2091715477#frequency_tab" } ], "glycoeffect": [], "start_pos": 3608, "end_pos": 3608, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093738", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3608", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091715131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091715131" }, { "id": "rs2091715131", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091715131" } ], "glycoeffect": [], "start_pos": 3609, "end_pos": 3609, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093733", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3609", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776847358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776847358" }, { "id": "rs776847358", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776847358" }, { "id": "rs776847358", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776847358#frequency_tab" }, { "id": "rs776847358", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776847358" } ], "glycoeffect": [], "start_pos": 3609, "end_pos": 3609, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093734", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3609", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092666675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092666675" }, { "id": "rs2092666675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092666675#frequency_tab" }, { "id": "rs2092666675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092666675" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117912", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555459001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555459001" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2117906_2117916", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E360", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1270404168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270404168" }, { "id": "rs1270404168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1270404168#frequency_tab" }, { "id": "rs1270404168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270404168" } ], "glycoeffect": [], "start_pos": 3610, "end_pos": 3610, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093732", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3610", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1350417259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350417259" }, { "id": "rs1350417259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350417259" } ], "glycoeffect": [], "start_pos": 3611, "end_pos": 3611, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093729", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3611", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1278551854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278551854" }, { "id": "rs1278551854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1278551854" } ], "glycoeffect": [], "start_pos": 3612, "end_pos": 3612, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093725", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3612", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1367335682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367335682" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3614, "end_pos": 3614, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093718", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2041022800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2041022800" }, { "id": "rs2041022800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2041022800#frequency_tab" }, { "id": "rs2041022800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2041022800" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 3614, "end_pos": 3614, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093720", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y3614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567158067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567158067" }, { "id": "rs1567158067", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567158067" } ], "glycoeffect": [], "start_pos": 3617, "end_pos": 3617, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093710", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3617", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544648514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544648514" } ], "glycoeffect": [], "start_pos": 3617, "end_pos": 3617, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093713GA", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3617", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs748807668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748807668" }, { "id": "rs748807668", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748807668" }, { "id": "rs748807668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748807668" } ], "glycoeffect": [], "start_pos": 3618, "end_pos": 3618, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093707", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748807668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748807668" }, { "id": "rs748807668", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748807668" }, { "id": "rs748807668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748807668" } ], "glycoeffect": [], "start_pos": 3618, "end_pos": 3618, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093707", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091713601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091713601" }, { "id": "rs2091713601", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091713601" } ], "glycoeffect": [], "start_pos": 3618, "end_pos": 3618, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093708", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V3618", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398697077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398697077" }, { "id": "rs1398697077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398697077" } ], "glycoeffect": [], "start_pos": 3619, "end_pos": 3619, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093705", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs115883514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs115883514" }, { "id": "rs115883514", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs115883514" }, { "id": "rs115883514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs115883514" }, { "id": "rs115883514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs115883514" } ], "glycoeffect": [], "start_pos": 3619, "end_pos": 3619, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093704", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A3619", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750029505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750029505" }, { "id": "rs750029505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750029505" }, { "id": "rs750029505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750029505" } ], "glycoeffect": [], "start_pos": 3620, "end_pos": 3620, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093701", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750029505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750029505" }, { "id": "rs750029505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750029505" }, { "id": "rs750029505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750029505" } ], "glycoeffect": [], "start_pos": 3620, "end_pos": 3620, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093701", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757102075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757102075" }, { "id": "rs757102075", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757102075" }, { "id": "rs757102075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757102075#frequency_tab" }, { "id": "rs757102075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757102075" } ], "glycoeffect": [], "start_pos": 3621, "end_pos": 3621, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093698", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3621", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781000825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781000825" }, { "id": "rs781000825", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781000825" }, { "id": "rs781000825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781000825#frequency_tab" }, { "id": "rs781000825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781000825" }, { "id": "rs781000825", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781000825" } ], "glycoeffect": [], "start_pos": 3621, "end_pos": 3621, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093699", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R3621", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs547817567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547817567" }, { "id": "rs547817567", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547817567" }, { "id": "rs547817567", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547817567" }, { "id": "rs547817567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs547817567#frequency_tab" }, { "id": "rs547817567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547817567" } ], "glycoeffect": [], "start_pos": 3623, "end_pos": 3623, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093691", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "H3623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2091712396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091712396" }, { "id": "rs2091712396", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2091712396" } ], "glycoeffect": [], "start_pos": 3623, "end_pos": 3623, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093693", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H3623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764059379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764059379" }, { "id": "rs764059379", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764059379" }, { "id": "rs764059379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764059379#frequency_tab" }, { "id": "rs764059379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764059379" } ], "glycoeffect": [], "start_pos": 3624, "end_pos": 3624, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093689", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3624", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1054899851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1054899851" }, { "id": "rs1054899851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1054899851" } ], "glycoeffect": [], "start_pos": 3624, "end_pos": 3624, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093690", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3624", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151707679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151707679" }, { "id": "rs2151707679", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151707679" } ], "glycoeffect": [], "start_pos": 3625, "end_pos": 3625, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093686", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140757877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140757877" }, { "id": "rs140757877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140757877#frequency_tab" }, { "id": "rs140757877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140757877" } ], "glycoeffect": [], "start_pos": 3625, "end_pos": 3625, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093687", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3625", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs140757877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140757877" }, { "id": "rs140757877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140757877#frequency_tab" }, { "id": "rs140757877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140757877" }, { "id": "rs140757877", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140757877" } ], "glycoeffect": [], "start_pos": 3625, "end_pos": 3625, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/c-type/polycystin).", "chr_id": "16", "chr_pos": "2093687", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D3625", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1046924289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046924289" }, { "id": "rs1046924289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1046924289#frequency_tab" }, { "id": "rs1046924289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1046924289" } ], "glycoeffect": [], "start_pos": 3626, "end_pos": 3626, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093684", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1046924289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046924289" }, { "id": "rs1046924289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1046924289#frequency_tab" }, { "id": "rs1046924289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1046924289" } ], "glycoeffect": [], "start_pos": 3626, "end_pos": 3626, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093684", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E3626", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1160471199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1160471199" }, { "id": "rs1160471199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1160471199" } ], "glycoeffect": [], "start_pos": 3627, "end_pos": 3627, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2093680", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3627", "keywords": [ "ebi", "germline" ] } ] } }