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glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097952", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1397351739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1397351739" }, { "id": "rs1397351739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1397351739" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 891, "end_pos": 891, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGT->NGT); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32088893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D891", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200536380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200536380" }, { "id": "rs1200536380", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200536380#frequency_tab" }, { "id": "rs1200536380", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200536380" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 936, "end_pos": 936, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32086091", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T936", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1191806705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191806705" }, { "id": "rs1191806705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191806705" } ], "glycoeffect": [ 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"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", "ebi" ] }, { "evidence": [ { "id": "rs1313934491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313934491" }, { "id": "rs1313934491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313934491" } ], "glycoeffect": [], "start_pos": 1054, "end_pos": 1054, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084698", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252463947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252463947" }, { "id": "rs1252463947", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252463947#frequency_tab" } ], "glycoeffect": [], "start_pos": 1055, "end_pos": 1055, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084693", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770570743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770570743#frequency_tab" }, { "id": "rs770570743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770570743" } ], "glycoeffect": [], "start_pos": 1056, "end_pos": 1056, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084692", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770570743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770570743" }, { "id": "rs770570743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770570743#frequency_tab" }, { "id": "rs770570743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770570743" } ], "glycoeffect": [], "start_pos": 1056, "end_pos": 1056, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084692", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772697601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772697601" }, { "id": "rs772697601", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772697601" }, { "id": "rs772697601", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772697601" } ], "glycoeffect": [], "start_pos": 1061, "end_pos": 1061, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084677", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1061", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168385215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168385215" }, { "id": "rs1168385215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168385215" } ], "glycoeffect": [], "start_pos": 1062, "end_pos": 1062, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084673", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs182750850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182750850" }, { "id": "rs182750850", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182750850" }, { "id": "rs182750850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182750850" } ], "glycoeffect": [], "start_pos": 1062, "end_pos": 1062, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084674", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P1062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1476186163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476186163" }, { "id": "rs1476186163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476186163" } ], "glycoeffect": [], "start_pos": 1063, "end_pos": 1063, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084671", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771591938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771591938" }, { "id": "rs771591938", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771591938" }, { "id": "rs771591938", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771591938#frequency_tab" }, { "id": "rs771591938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771591938" } ], "glycoeffect": [], "start_pos": 1064, "end_pos": 1064, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084668", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61995676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61995676" }, { "id": "rs61995676", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61995676" }, { "id": "rs61995676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61995676" }, { "id": "rs61995676", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61995676#frequency_tab" }, { "id": "rs61995676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61995676" } ], "glycoeffect": [], "start_pos": 1064, "end_pos": 1064, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084667", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.00294349", "site_lbl": "R1064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1252356921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252356921" }, { "id": "rs1252356921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1252356921" } ], "glycoeffect": [], "start_pos": 1065, "end_pos": 1065, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084665", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779435692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779435692" }, { "id": "rs779435692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779435692" }, { "id": "rs779435692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779435692" } ], "glycoeffect": [], "start_pos": 1067, "end_pos": 1067, 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"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": "" }, { 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"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: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 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"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:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos 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"https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": 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"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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs200432719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200432719" }, { "id": "rs200432719", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200432719" }, { "id": "rs200432719", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200432719" }, { "id": "rs200432719", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200432719#frequency_tab" }, { "id": "rs200432719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200432719" }, { "id": "rs200432719", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200432719" } ], "glycoeffect": [], "start_pos": 1093, "end_pos": 1093, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084581", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1093", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2127261950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127261950" }, { "id": "rs2127261950", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127261950" } ], "glycoeffect": [], "start_pos": 1094, "end_pos": 1094, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084576", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1094", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773838972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773838972" }, { "id": "rs773838972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773838972" }, { "id": "rs773838972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773838972" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1096, "end_pos": 1096, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084571", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483693286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483693286" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1096, "end_pos": 1096, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084572", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764070148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764070148" }, { "id": "11642233", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11642233" }, { "id": "12865992", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12865992" } ], "glycoeffect": [], "start_pos": 1097, "end_pos": 1097, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084568_32084569", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1097", "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1098, "end_pos": 1098, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "6", "chr_pos": "32084566", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1098", "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": 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(r. steet).", "chr_id": "6", "chr_pos": "32084563", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1099", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2483770767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2483770767" } ], "glycoeffect": [], "start_pos": 109, "end_pos": 109, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32097873", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747624258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747624258" }, { "id": "rs747624258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747624258" }, { "id": "rs747624258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747624258#frequency_tab" }, { "id": "rs747624258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747624258" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098170", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 10, "end_pos": 10, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "6", "chr_pos": "32098171", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S10", "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, 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"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", 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"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": 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"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": "rs749807972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749807972" }, { "id": "rs749807972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749807972" }, { "id": "rs749807972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749807972#frequency_tab" }, { "id": "rs749807972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749807972" } ], "glycoeffect": [], "start_pos": 1100, "end_pos": 1100, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084558", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780388033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780388033" }, { "id": "rs780388033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780388033" }, { "id": "rs780388033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780388033#frequency_tab" }, { "id": "rs780388033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780388033" } ], "glycoeffect": [], "start_pos": 1101, "end_pos": 1101, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084557", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1101", "disease": [ { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MIM:610878", "resource": "MIM", "url": "https://www.omim.org/entry/610878", "name": "Vesicoureteral reflux 2", "description": "Vesicoureteral reflux 2" }, { "id": "MIM:613674", "resource": "MIM", "url": "https://www.omim.org/entry/613674", "name": "Vesicoureteral reflux 3", "description": "Vesicoureteral reflux 3" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 8" }, { "id": "MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1447724460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447724460" }, { "id": "rs1447724460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447724460" } ], "glycoeffect": [], "start_pos": 1102, "end_pos": 1102, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127261868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127261868" }, { "id": "rs2127261868", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127261868" } ], "glycoeffect": [], "start_pos": 1106, "end_pos": 1106, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline 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{ "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": "rs2127261845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127261845" }, { "id": "rs2127261845", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127261845" } ], "glycoeffect": [], "start_pos": 1107, "end_pos": 1107, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084539", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1108, "end_pos": 1108, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "6", "chr_pos": "32084535", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1108", "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": 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"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": "rs1435025447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435025447" }, { "id": "rs1435025447", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1435025447" } ], "glycoeffect": [], "start_pos": 1140, "end_pos": 1140, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32084440", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs771352294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771352294" }, { "id": "rs771352294", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771352294" }, { "id": "rs771352294", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771352294#frequency_tab" }, { "id": "rs771352294", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771352294" }, { "id": "rs771352294", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771352294" } ], "glycoeffect": [], "start_pos": 1141, "end_pos": 1141, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "6", "chr_pos": "32084436", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1141", "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" } ] }, { "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": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 1141, "end_pos": 1141, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "6", "chr_pos": "32084437", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1141", "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": 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"https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127257051" }, { "id": "rs2127257051", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127257051" } ], "glycoeffect": [], "start_pos": 1164, "end_pos": 1164, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082282", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs914805218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914805218" }, { "id": "rs914805218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs914805218#frequency_tab" } ], "glycoeffect": [], "start_pos": 1167, "end_pos": 1167, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", 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"https://www.ensembl.org/id/rs1582441689" } ], "glycoeffect": [], "start_pos": 1213, "end_pos": 1213, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774582576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774582576" }, { "id": "rs774582576", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774582576" }, { "id": "rs774582576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774582576#frequency_tab" }, { "id": "rs774582576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774582576" } ], "glycoeffect": [], "start_pos": 1213, "end_pos": 1213, "sequence_org": "V", "sequence_mut": "F", 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"ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244913427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244913427" }, { "id": "rs1244913427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244913427" } ], "glycoeffect": [], "start_pos": 1214, "end_pos": 1214, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082132", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779497979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779497979" }, { "id": "rs1779497979", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779497979#frequency_tab" 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"32082125", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779497460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779497460" }, { "id": "rs1779497460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779497460#frequency_tab" } ], "glycoeffect": [], "start_pos": 1217, "end_pos": 1217, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082123", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1217", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138300355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138300355" }, { "id": "rs138300355", "database": "1000Genomes", "url": 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"https://www.ncbi.nlm.nih.gov/snp/rs1779497133#frequency_tab" } ], "glycoeffect": [], "start_pos": 1218, "end_pos": 1218, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32082120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749332638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749332638" }, { "id": "rs749332638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749332638" }, { "id": "rs749332638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749332638" } ], "glycoeffect": [], "start_pos": 1219, "end_pos": 1219, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. 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"https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", 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cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262845873" }, { "id": "rs1262845873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262845873" } ], "glycoeffect": [], "start_pos": 1256, "end_pos": 1256, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32081644", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779451007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779451007" }, { "id": "rs1779451007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779451007" } ], "glycoeffect": [], "start_pos": 1256, "end_pos": 1256, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin 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"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: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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779291881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779291881" }, { "id": "rs1779291881", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779291881" }, { "id": "rs1779291881", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1779291881" } ], "glycoeffect": [], "start_pos": 1410, "end_pos": 1410, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079180", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1410", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1321697677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321697677" }, { "id": "rs1321697677", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1321697677#frequency_tab" } ], "glycoeffect": [], "start_pos": 1411, "end_pos": 1411, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079177", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773727721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773727721" }, { "id": "rs773727721", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773727721" }, { "id": "rs773727721", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773727721#frequency_tab" }, { "id": "rs773727721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773727721" } ], "glycoeffect": [], "start_pos": 1412, "end_pos": 1412, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761371066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761371066" }, { "id": "rs761371066", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761371066" }, { "id": "rs761371066", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761371066#frequency_tab" }, { "id": "rs761371066", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761371066" }, { "id": "rs761371066", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs761371066" } ], "glycoeffect": [], "start_pos": 1412, "end_pos": 1412, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32079174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1412", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1779290580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779290580" }, { "id": "rs1779290580", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779290580#frequency_tab" } ], "glycoeffect": [], "start_pos": 1413, "end_pos": 1413, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb 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