{ "batchid": 6, "recordid": "P98161-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs756147178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756147178" }, { "id": "rs756147178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756147178" }, { "id": "rs756147178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756147178#frequency_tab" }, { "id": "rs756147178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756147178" } ], "glycoeffect": [], "start_pos": 1942, "end_pos": 1942, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109342", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1942", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567195285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567195285" } ], "glycoeffect": [], "start_pos": 1942, "end_pos": 1942, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109347", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1942", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs137978188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137978188" }, { "id": "rs137978188", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137978188" }, { "id": "rs137978188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137978188" }, { "id": "rs137978188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137978188#frequency_tab" }, { "id": "rs137978188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137978188" } ], "glycoeffect": [], "start_pos": 1943, "end_pos": 1943, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109340", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0455259", "site_lbl": "V1943", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs137978188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137978188" }, { "id": "rs137978188", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137978188" }, { "id": "rs137978188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137978188" }, { "id": "rs137978188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137978188#frequency_tab" }, { "id": "rs137978188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137978188" } ], "glycoeffect": [], "start_pos": 1943, "end_pos": 1943, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0455259", "site_lbl": "V1943", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs200001471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200001471" }, { "id": "rs200001471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200001471" }, { "id": "rs200001471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200001471#frequency_tab" }, { "id": "rs200001471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200001471" } ], "glycoeffect": [], "start_pos": 1944, "end_pos": 1944, "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109337", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1944", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs200001471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200001471" }, { "id": "rs200001471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200001471" }, { "id": "rs200001471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200001471#frequency_tab" }, { "id": "rs200001471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200001471" }, { "id": "rs200001471", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200001471" } ], "glycoeffect": [], "start_pos": 1944, "end_pos": 1944, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109337", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1944", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1432150573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432150573" }, { "id": "rs1432150573", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1432150573#frequency_tab" }, { "id": "rs1432150573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1432150573" } ], "glycoeffect": [], "start_pos": 1945, "end_pos": 1945, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092442080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092442080" }, { "id": "rs2092442080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092442080#frequency_tab" } ], "glycoeffect": [], "start_pos": 1945, "end_pos": 1945, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109334", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1945", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs80360489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80360489" }, { "id": "rs80360489", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs80360489" } ], "glycoeffect": [], "start_pos": 1946, "end_pos": 1946, "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109331", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1946", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs80360489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80360489" }, { "id": "rs80360489", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs80360489" } ], "glycoeffect": [], "start_pos": 1946, "end_pos": 1946, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1946", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092441928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092441928" }, { "id": "rs2092441928", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092441928" } ], "glycoeffect": [], "start_pos": 1946, "end_pos": 1946, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109330", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1946", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1006776715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1006776715" }, { "id": "rs1006776715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1006776715#frequency_tab" }, { "id": "rs1006776715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1006776715" } ], "glycoeffect": [], "start_pos": 1947, "end_pos": 1947, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109328", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1947", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1316705471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316705471" }, { "id": "rs1316705471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316705471" } ], "glycoeffect": [], "start_pos": 1948, "end_pos": 1948, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109325", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1948", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544808543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544808543" } ], "glycoeffect": [], "start_pos": 1948, "end_pos": 1948, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109323CAC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1948", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1455259763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455259763" }, { "id": "rs1455259763", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455259763" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1949, "end_pos": 1949, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109322", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765777106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765777106" }, { "id": "rs765777106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765777106" }, { "id": "rs765777106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765777106#frequency_tab" }, { "id": "rs765777106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765777106" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1949, "end_pos": 1949, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109321", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765777106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765777106" }, { "id": "rs765777106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765777106" }, { "id": "rs765777106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765777106#frequency_tab" }, { "id": "rs765777106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765777106" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1949, "end_pos": 1949, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109321", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765777106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765777106" }, { "id": "rs765777106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765777106" }, { "id": "rs765777106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765777106#frequency_tab" }, { "id": "rs765777106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765777106" } ], "glycoeffect": [], "start_pos": 1949, "end_pos": 1949, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109321", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs769369111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769369111" }, { "id": "rs769369111", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769369111" }, { "id": "rs769369111", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769369111" }, { "id": "rs769369111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769369111#frequency_tab" }, { "id": "rs769369111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769369111" } ], "glycoeffect": [], "start_pos": 194, "end_pos": 194, "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2118412", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A194", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs771669643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771669643" }, { "id": "rs771669643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771669643" }, { "id": "rs771669643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771669643#frequency_tab" }, { "id": "rs771669643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771669643" } ], "glycoeffect": [], "start_pos": 1950, "end_pos": 1950, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109319", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs771669643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771669643" }, { "id": "rs771669643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771669643" }, { "id": "rs771669643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771669643#frequency_tab" }, { "id": "rs771669643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771669643" }, { "id": "rs771669643", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771669643" } ], "glycoeffect": [], "start_pos": 1950, "end_pos": 1950, "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109319", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1950", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs137905643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137905643" }, { "id": "rs137905643", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137905643" }, { "id": "rs137905643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137905643" }, { "id": "rs137905643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137905643#frequency_tab" }, { "id": "rs137905643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137905643" }, { "id": "rs137905643", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137905643" } ], "glycoeffect": [], "start_pos": 1951, "end_pos": 1951, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109315", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1951", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs191717700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191717700" }, { "id": "rs191717700", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs191717700" }, { "id": "rs191717700", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191717700" }, { "id": "rs191717700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs191717700#frequency_tab" }, { "id": "rs191717700", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs191717700" } ], "glycoeffect": [], "start_pos": 1951, "end_pos": 1951, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109316", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R1951", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092441433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092441433" }, { "id": "rs2092441433", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092441433" } ], "glycoeffect": [], "start_pos": 1952, "end_pos": 1952, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109312", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1952", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749176299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749176299" }, { "id": "rs749176299", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749176299" }, { "id": "rs749176299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749176299#frequency_tab" }, { "id": "rs749176299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749176299" } ], "glycoeffect": [], "start_pos": 1953, "end_pos": 1953, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109310", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092441328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092441328" }, { "id": "rs2092441328", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092441328" } ], "glycoeffect": [], "start_pos": 1953, "end_pos": 1953, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109309", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454886" } ], "glycoeffect": [], "start_pos": 1953, "end_pos": 1953, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109315", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1953", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1243570710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243570710" }, { "id": "rs1243570710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243570710" } ], "glycoeffect": [], "start_pos": 1954, "end_pos": 1954, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109306", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1954", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151791178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151791178" } ], "glycoeffect": [], "start_pos": 1954, "end_pos": 1954, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109311", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1954", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs145225830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145225830" }, { "id": "rs145225830", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145225830" }, { "id": "rs145225830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145225830#frequency_tab" }, { "id": "rs145225830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145225830" } ], "glycoeffect": [], "start_pos": 1955, "end_pos": 1955, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109302", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1955", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2092441255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092441255" }, { "id": "rs2092441255", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092441255" } ], "glycoeffect": [], "start_pos": 1955, "end_pos": 1955, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109304", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1955", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544808284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544808284" } ], "glycoeffect": [], "start_pos": 1955, "end_pos": 1955, "sequence_org": "H", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109304_2109306", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1955", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs781454286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781454286" }, { "id": "rs781454286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781454286" }, { "id": "rs781454286", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781454286#frequency_tab" }, { "id": "rs781454286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781454286" } ], "glycoeffect": [], "start_pos": 1956, "end_pos": 1956, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109301", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1956", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs781454286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781454286" }, { "id": "rs781454286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781454286" }, { "id": "rs781454286", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781454286#frequency_tab" }, { "id": "rs781454286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781454286" } ], "glycoeffect": [], "start_pos": 1956, "end_pos": 1956, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109301", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1956", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1321453500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1321453500" }, { "id": "rs1321453500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321453500" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1957, "end_pos": 1957, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109298", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1957", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778122129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778122129" }, { "id": "rs778122129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778122129" }, { "id": "rs778122129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778122129" } ], "glycoeffect": [], "start_pos": 1958, "end_pos": 1958, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109293", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215613927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215613927" }, { "id": "rs1215613927", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215613927#frequency_tab" }, { "id": "rs1215613927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215613927" } ], "glycoeffect": [], "start_pos": 1958, "end_pos": 1958, "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109295", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751817189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751817189" }, { "id": "rs751817189", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751817189" }, { "id": "rs751817189", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751817189#frequency_tab" }, { "id": "rs751817189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751817189" } ], "glycoeffect": [], "start_pos": 1958, "end_pos": 1958, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109294", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215613927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215613927" }, { "id": "rs1215613927", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215613927#frequency_tab" }, { "id": "rs1215613927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215613927" } ], "glycoeffect": [], "start_pos": 1958, "end_pos": 1958, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109295", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W1958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440895" }, { "id": "rs2092440895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092440895#frequency_tab" } ], "glycoeffect": [], "start_pos": 1959, "end_pos": 1959, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109291", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1959", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs939597598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939597598" }, { "id": "rs939597598", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs939597598#frequency_tab" } ], "glycoeffect": [], "start_pos": 1959, "end_pos": 1959, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109292", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1959", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745374553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745374553" }, { "id": "rs745374553", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745374553" }, { "id": "rs745374553", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745374553" } ], "glycoeffect": [], "start_pos": 195, "end_pos": 195, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118408", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567195059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567195059" }, { "id": "rs1567195059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567195059" } ], "glycoeffect": [], "start_pos": 1960, "end_pos": 1960, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109289", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1960", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs375440448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375440448" }, { "id": "rs375440448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375440448" }, { "id": "rs375440448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375440448#frequency_tab" }, { "id": "rs375440448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375440448" } ], "glycoeffect": [], "start_pos": 1961, "end_pos": 1961, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109285", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1961", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375440448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375440448" }, { "id": "rs375440448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375440448" }, { "id": "rs375440448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375440448#frequency_tab" }, { "id": "rs375440448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375440448" } ], "glycoeffect": [], "start_pos": 1961, "end_pos": 1961, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109285", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1961", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440803" }, { "id": "rs2092440803", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092440803" } ], "glycoeffect": [], "start_pos": 1961, "end_pos": 1961, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109286", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1961", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375440448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375440448" }, { "id": "rs375440448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375440448" }, { "id": "rs375440448", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375440448#frequency_tab" }, { "id": "rs375440448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375440448" } ], "glycoeffect": [], "start_pos": 1961, "end_pos": 1961, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109285", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1961", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1337022607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337022607" }, { "id": "rs1337022607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337022607#frequency_tab" }, { "id": "rs1337022607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337022607" } ], "glycoeffect": [], "start_pos": 1962, "end_pos": 1962, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1962", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1337022607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337022607" }, { "id": "rs1337022607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337022607#frequency_tab" }, { "id": "rs1337022607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337022607" } ], "glycoeffect": [], "start_pos": 1962, "end_pos": 1962, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109283", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1962", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs576561885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576561885" }, { "id": "rs576561885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs576561885" } ], "glycoeffect": [], "start_pos": 1962, "end_pos": 1962, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109282", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1962", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440281" } ], "glycoeffect": [], "start_pos": 1962, "end_pos": 1962, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109279_2109286", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1962", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596553666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596553666" } ], "glycoeffect": [], "start_pos": 1963, "end_pos": 1963, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109279", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596553666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596553666" }, { "id": "rs1596553666", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596553666" } ], "glycoeffect": [], "start_pos": 1963, "end_pos": 1963, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109279", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440529" }, { "id": "rs2092440529", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092440529" } ], "glycoeffect": [], "start_pos": 1963, "end_pos": 1963, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109280", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440529" }, { "id": "rs2092440529", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092440529" } ], "glycoeffect": [], "start_pos": 1963, "end_pos": 1963, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109280", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440563" } ], "glycoeffect": [], "start_pos": 1963, "end_pos": 1963, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109281", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs755505600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755505600" }, { "id": "rs755505600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755505600" }, { "id": "rs755505600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755505600#frequency_tab" }, { "id": "rs755505600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755505600" }, { "id": "rs755505600", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755505600" } ], "glycoeffect": [], "start_pos": 1964, "end_pos": 1964, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109277", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1964", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs754379960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754379960" }, { "id": "rs754379960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754379960" }, { "id": "rs754379960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754379960#frequency_tab" }, { "id": "rs754379960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754379960" } ], "glycoeffect": [], "start_pos": 1964, "end_pos": 1964, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109276", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1964", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs754379960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754379960" }, { "id": "rs754379960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754379960" }, { "id": "rs754379960", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754379960#frequency_tab" }, { "id": "rs754379960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754379960" } ], "glycoeffect": [], "start_pos": 1964, "end_pos": 1964, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109276", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1964", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092440406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092440406" } ], "glycoeffect": [], "start_pos": 1964, "end_pos": 1964, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109277", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1964", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs773874840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773874840" }, { "id": "rs773874840", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773874840" }, { "id": "rs773874840", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773874840" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109274", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs558825346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558825346" }, { "id": "rs558825346", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558825346" }, { "id": "rs558825346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558825346" }, { "id": "rs558825346", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs558825346#frequency_tab" }, { "id": "rs558825346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558825346" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109272", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I1965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs571415230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571415230" }, { "id": "rs571415230", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs571415230" }, { "id": "rs571415230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs571415230" }, { "id": "rs571415230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs571415230" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I1965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773874840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773874840" }, { "id": "rs773874840", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773874840" }, { "id": "rs773874840", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773874840" } ], "glycoeffect": [], "start_pos": 1965, "end_pos": 1965, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109274", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1965", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 1966, "end_pos": 1966, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109270", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V1966", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779086418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779086418" }, { "id": "rs779086418", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779086418" }, { "id": "rs779086418", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779086418#frequency_tab" }, { "id": "rs779086418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779086418" } ], "glycoeffect": [], "start_pos": 1966, "end_pos": 1966, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109271", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1966", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779086418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779086418" }, { "id": "rs779086418", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779086418" }, { "id": "rs779086418", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779086418#frequency_tab" }, { "id": "rs779086418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779086418" } ], "glycoeffect": [], "start_pos": 1966, "end_pos": 1966, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109271", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1966", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs981090955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981090955" }, { "id": "rs981090955", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs981090955#frequency_tab" } ], "glycoeffect": [], "start_pos": 1967, "end_pos": 1967, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109267", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1967", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243563175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243563175" }, { "id": "rs1243563175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243563175" } ], "glycoeffect": [], "start_pos": 1967, "end_pos": 1967, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109268", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1967", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454847" } ], "glycoeffect": [], "start_pos": 1967, "end_pos": 1967, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109266CAC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1967", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] }, { "disease_id": "DOID:0060980", "recommended_name": { "id": "DOID:0060980", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060980", "name": "polycystic liver disease 1", "description": "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13." }, "synonyms": [ { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease 1", "description": "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "isolated congenital polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "isolated polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "PCLD1", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "nonsyndromic congenital polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "nonsyndromic polycystic liver disease (disease)", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease 1", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease 1 with or without kidney cysts", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "ADPCLD", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "PCLD", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "isolated autosomal dominant polycystic liver disease", "description": "" }, { "id": "MONDO:0008265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008265", "name": "polycystic liver disease", "description": "" }, { "id": "MIM:174050", "resource": "MIM", "url": "https://www.omim.org/entry/174050", "name": "Polycystic liver disease 1 with or without kidney cysts", "description": "Polycystic liver disease 1 with or without kidney cysts" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060980", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060980" }, { "id": "0060980", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060980" } ] } ] }, { "evidence": [ { "id": "rs2092674084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092674084" }, { "id": "rs2092674084", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092674084#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 196, "end_pos": 196, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118405", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482408522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482408522" }, { "id": "rs1482408522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1482408522#frequency_tab" }, { "id": "rs1482408522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482408522" } ], "glycoeffect": [], "start_pos": 1970, "end_pos": 1970, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109259", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1970", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482408522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482408522" }, { "id": "rs1482408522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1482408522#frequency_tab" }, { "id": "rs1482408522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482408522" } ], "glycoeffect": [], "start_pos": 1970, "end_pos": 1970, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109259", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1970", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 1970, "end_pos": 1970, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109258", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1970", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs140434415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140434415" }, { "id": "rs140434415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140434415" }, { "id": "rs140434415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140434415#frequency_tab" }, { "id": "rs140434415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140434415" } ], "glycoeffect": [], "start_pos": 1971, "end_pos": 1971, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109256", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1971", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs140434415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140434415" }, { "id": "rs140434415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140434415" }, { "id": "rs140434415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140434415#frequency_tab" }, { "id": "rs140434415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140434415" }, { "id": "rs140434415", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140434415" } ], "glycoeffect": [], "start_pos": 1971, "end_pos": 1971, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109256", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1971", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1271559004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1271559004" }, { "id": "rs1271559004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1271559004" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1972, "end_pos": 1972, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109253", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1972", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567194928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567194928" }, { "id": "rs2151790839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151790839" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1972, "end_pos": 1972, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109254delins", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1972", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092439627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092439627" }, { "id": "rs2092439627", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092439627" } ], "glycoeffect": [], "start_pos": 1974, "end_pos": 1974, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109246", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1974", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596553527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596553527" } ], "glycoeffect": [], "start_pos": 1974, "end_pos": 1974, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109246", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1974", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092439541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092439541" }, { "id": "rs2092439541", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092439541" } ], "glycoeffect": [], "start_pos": 1975, "end_pos": 1975, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109244", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1975", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs570001665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570001665" }, { "id": "rs570001665", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570001665" } ], "glycoeffect": [], "start_pos": 1976, "end_pos": 1976, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109240", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V1976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2854618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2854618" }, { "id": "rs2854618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2854618" } ], "glycoeffect": [], "start_pos": 1976, "end_pos": 1976, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109241", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2854618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2854618" }, { "id": "rs2854618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2854618" } ], "glycoeffect": [], "start_pos": 1976, "end_pos": 1976, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109241", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1275762694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275762694" }, { "id": "rs1275762694", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275762694#frequency_tab" }, { "id": "rs1275762694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275762694" } ], "glycoeffect": [], "start_pos": 1977, "end_pos": 1977, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1018079990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018079990" }, { "id": "rs1018079990", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1018079990#frequency_tab" }, { "id": "rs1018079990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1018079990" } ], "glycoeffect": [], "start_pos": 1977, "end_pos": 1977, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109238", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373707925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373707925" }, { "id": "rs373707925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373707925" }, { "id": "rs373707925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373707925#frequency_tab" }, { "id": "rs373707925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373707925" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1978, "end_pos": 1978, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109234", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779302666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779302666" }, { "id": "rs779302666", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779302666" }, { "id": "rs779302666", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779302666#frequency_tab" }, { "id": "rs779302666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779302666" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1978, "end_pos": 1978, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109233", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1978", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373707925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373707925" }, { "id": "rs373707925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373707925" }, { "id": "rs373707925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373707925#frequency_tab" }, { "id": "rs373707925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373707925" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1978, "end_pos": 1978, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109234", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1978", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs754333013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754333013" }, { "id": "rs754333013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754333013" }, { "id": "rs754333013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754333013" } ], "glycoeffect": [], "start_pos": 1979, "end_pos": 1979, "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109230", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C1979", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550218236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550218236" }, { "id": "rs550218236", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550218236" }, { "id": "rs550218236", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550218236" }, { "id": "rs550218236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550218236" }, { "id": "rs1347670611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347670611" }, { "id": "rs1347670611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347670611#frequency_tab" }, { "id": "rs1347670611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347670611" } ], "glycoeffect": [], "start_pos": 1979, "end_pos": 1979, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109232", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "C1979", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347670611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347670611" }, { "id": "rs1347670611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1347670611#frequency_tab" }, { "id": "rs1347670611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347670611" } ], "glycoeffect": [], "start_pos": 1979, "end_pos": 1979, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109231", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C1979", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544807269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544807269" } ], "glycoeffect": [], "start_pos": 1979, "end_pos": 1979, "sequence_org": "C", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109218_2109231", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C1979", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs766942653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766942653" }, { "id": "rs766942653", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766942653" }, { "id": "rs766942653", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766942653#frequency_tab" }, { "id": "rs766942653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766942653" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1980, "end_pos": 1980, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109229", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C1980", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092438958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092438958" }, { "id": "rs2092438958", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092438958" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1980, "end_pos": 1980, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109228", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C1980", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs567995837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567995837" }, { "id": "rs567995837", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs567995837" }, { "id": "rs567995837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567995837" }, { "id": "rs567995837", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs567995837#frequency_tab" }, { "id": "rs567995837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs567995837" } ], "glycoeffect": [], "start_pos": 1981, "end_pos": 1981, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "E1981", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs763606015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763606015" }, { "id": "rs763606015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763606015" }, { "id": "rs763606015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763606015" } ], "glycoeffect": [], "start_pos": 1981, "end_pos": 1981, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109225", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1981", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs142174466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142174466" }, { "id": "rs142174466", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142174466" }, { "id": "rs142174466", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142174466#frequency_tab" }, { "id": "rs142174466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142174466" } ], "glycoeffect": [], "start_pos": 1981, "end_pos": 1981, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109226", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1981", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1358403431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358403431" }, { "id": "rs1358403431", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1358403431#frequency_tab" }, { "id": "rs1358403431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358403431" } ], "glycoeffect": [], "start_pos": 1982, "end_pos": 1982, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109222", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775047045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775047045" }, { "id": "rs775047045", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775047045" }, { "id": "rs775047045", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775047045#frequency_tab" }, { "id": "rs775047045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775047045" } ], "glycoeffect": [], "start_pos": 1982, "end_pos": 1982, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775047045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775047045" }, { "id": "rs775047045", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775047045" }, { "id": "rs775047045", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775047045#frequency_tab" }, { "id": "rs775047045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775047045" } ], "glycoeffect": [], "start_pos": 1982, "end_pos": 1982, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109223", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1982", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1223013836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223013836" }, { "id": "rs1223013836", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223013836#frequency_tab" } ], "glycoeffect": [], "start_pos": 1983, "end_pos": 1983, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109219", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1249751390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249751390" }, { "id": "rs1249751390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249751390" } ], "glycoeffect": [], "start_pos": 1983, "end_pos": 1983, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109220", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1983", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759468846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759468846" }, { "id": "rs759468846", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759468846" }, { "id": "rs759468846", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759468846#frequency_tab" }, { "id": "rs759468846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759468846" } ], "glycoeffect": [], "start_pos": 1984, "end_pos": 1984, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109217", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1984", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771005067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771005067" }, { "id": "rs771005067", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771005067" }, { "id": "rs771005067", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771005067#frequency_tab" }, { "id": "rs771005067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771005067" } ], "glycoeffect": [], "start_pos": 1985, "end_pos": 1985, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109214", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771005067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771005067" }, { "id": "rs771005067", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771005067" }, { "id": "rs771005067", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771005067#frequency_tab" }, { "id": "rs771005067", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771005067" } ], "glycoeffect": [], "start_pos": 1985, "end_pos": 1985, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109214", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1985", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs747008112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747008112" }, { "id": "rs747008112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747008112" }, { "id": "rs747008112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747008112" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1986, "end_pos": 1986, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109211", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs200139724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200139724" }, { "id": "rs200139724", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200139724" }, { "id": "rs200139724", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200139724" }, { "id": "rs200139724", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200139724#frequency_tab" }, { "id": "rs200139724", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200139724" }, { "id": "rs200139724", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200139724" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1986, "end_pos": 1986, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109210", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1986", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs200139724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200139724" }, { "id": "rs200139724", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200139724" }, { "id": "rs200139724", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200139724" }, { "id": "rs200139724", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200139724#frequency_tab" }, { "id": "rs200139724", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200139724" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1986, "end_pos": 1986, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109210", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs527929848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527929848" }, { "id": "rs527929848", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs527929848" }, { "id": "rs527929848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs527929848" }, { "id": "rs527929848", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs527929848#frequency_tab" }, { "id": "rs527929848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs527929848" } ], "glycoeffect": [], "start_pos": 1987, "end_pos": 1987, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109207", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1987", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs779064240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779064240" }, { "id": "rs779064240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779064240" }, { "id": "rs779064240", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779064240#frequency_tab" }, { "id": "rs779064240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779064240" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1988, "end_pos": 1988, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109204", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779064240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779064240" }, { "id": "rs779064240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779064240" }, { "id": "rs779064240", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779064240#frequency_tab" }, { "id": "rs779064240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779064240" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1988, "end_pos": 1988, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109204", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092438222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092438222" }, { "id": "rs2092438222", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092438222" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1988, "end_pos": 1988, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109205", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1988", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092438140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092438140" }, { "id": "rs2092438140", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092438140" } ], "glycoeffect": [], "start_pos": 1990, "end_pos": 1990, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109197", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1990", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151790499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151790499" }, { "id": "rs2151790507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151790507" } ], "glycoeffect": [], "start_pos": 1990, "end_pos": 1990, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109199TC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1990", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs757896001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757896001" }, { "id": "rs757896001", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757896001" }, { "id": "rs757896001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757896001#frequency_tab" }, { "id": "rs757896001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757896001" } ], "glycoeffect": [], "start_pos": 1995, "end_pos": 1995, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109184", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752388015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752388015" }, { "id": "rs752388015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752388015" }, { "id": "rs752388015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752388015#frequency_tab" }, { "id": "rs752388015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752388015" } ], "glycoeffect": [], "start_pos": 1995, "end_pos": 1995, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109183", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752388015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752388015" }, { "id": "rs752388015", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752388015" }, { "id": "rs752388015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752388015#frequency_tab" }, { "id": "rs752388015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752388015" } ], "glycoeffect": [], "start_pos": 1995, "end_pos": 1995, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1995", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596553257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596553257" }, { "id": "rs1596553257", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596553257" } ], "glycoeffect": [], "start_pos": 1996, "end_pos": 1996, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1996", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1114167373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1114167373" }, { "id": "rs1114167373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1114167373#frequency_tab" }, { "id": "rs1114167373", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1114167373" }, { "id": "rs1114167373", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1114167373" } ], "glycoeffect": [], "start_pos": 1996, "end_pos": 1996, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109181", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1996", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2544806938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806938" } ], "glycoeffect": [], "start_pos": 1997, "end_pos": 1997, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109178", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q1997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759346142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759346142" }, { "id": "rs759346142", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759346142" }, { "id": "rs759346142", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759346142" }, { "id": "rs759346142", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759346142#frequency_tab" }, { "id": "rs759346142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759346142" } ], "glycoeffect": [], "start_pos": 1998, "end_pos": 1998, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109175", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R1998", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753707597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753707597" }, { "id": "rs753707597", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753707597" }, { "id": "rs753707597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753707597#frequency_tab" }, { "id": "rs753707597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753707597" } ], "glycoeffect": [], "start_pos": 1998, "end_pos": 1998, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1998", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092437527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092437527" }, { "id": "rs2092437527", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092437527#frequency_tab" } ], "glycoeffect": [], "start_pos": 1999, "end_pos": 1999, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109172", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1999", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2151858362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151858362" }, { "id": "rs2151858362", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151858362" } ], "glycoeffect": [], "start_pos": 19, "end_pos": 19, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135635", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567233098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567233098" } ], "glycoeffect": [], "start_pos": 1, "end_pos": 1, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135687", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596553232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596553232" }, { "id": "rs1596553232", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596553232" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2000, "end_pos": 2000, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109168", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2001, "end_pos": 2001, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109165", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2001", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1215993938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215993938" }, { "id": "rs1215993938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215993938" } ], "glycoeffect": [], "start_pos": 2001, "end_pos": 2001, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109165", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2001", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs773069152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773069152" }, { "id": "rs773069152", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773069152" }, { "id": "rs773069152", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773069152#frequency_tab" }, { "id": "rs773069152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773069152" }, { "id": "rs773069152", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773069152" } ], "glycoeffect": [], "start_pos": 2001, "end_pos": 2001, "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109166", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2001", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs2544806868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806868" } ], "glycoeffect": [], "start_pos": 2001, "end_pos": 2001, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109167AG", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2001", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs761868680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761868680" }, { "id": "rs761868680", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761868680" }, { "id": "rs761868680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761868680" } ], "glycoeffect": [], "start_pos": 2002, "end_pos": 2002, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109162", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382000376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382000376" } ], "glycoeffect": [], "start_pos": 2002, "end_pos": 2002, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109163", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382000376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382000376" }, { "id": "rs1382000376", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1382000376#frequency_tab" } ], "glycoeffect": [], "start_pos": 2002, "end_pos": 2002, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs201599671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201599671" }, { "id": "rs201599671", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201599671" }, { "id": "rs201599671", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201599671#frequency_tab" }, { "id": "rs201599671", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201599671" }, { "id": "rs201599671", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201599671" } ], "glycoeffect": [], "start_pos": 2003, "end_pos": 2003, "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109160", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2003", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2544806761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806761" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2004, "end_pos": 2004, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109156", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2004", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2004, "end_pos": 2004, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109157", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y2004", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1284559482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284559482" }, { "id": "rs1284559482", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1284559482#frequency_tab" }, { "id": "rs1284559482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284559482" } ], "glycoeffect": [], "start_pos": 2005, "end_pos": 2005, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109153", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2005", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389682915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389682915" }, { "id": "rs1389682915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1389682915#frequency_tab" }, { "id": "rs1389682915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389682915" } ], "glycoeffect": [], "start_pos": 2005, "end_pos": 2005, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2005", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544806700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806700" } ], "glycoeffect": [], "start_pos": 2006, "end_pos": 2006, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109149", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2006", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544806706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806706" } ], "glycoeffect": [], "start_pos": 2006, "end_pos": 2006, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109150", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2006", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147391291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147391291" }, { "id": "rs147391291", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147391291" }, { "id": "rs147391291", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147391291" }, { "id": "rs147391291", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147391291#frequency_tab" }, { "id": "rs147391291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147391291" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2007, "end_pos": 2007, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109146", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2007", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092436915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092436915" }, { "id": "rs2092436915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092436915#frequency_tab" }, { "id": "rs2092436915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092436915" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2007, "end_pos": 2007, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109147", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2007", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2007, "end_pos": 2007, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109148", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y2007", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs770185977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770185977" }, { "id": "rs770185977", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770185977" }, { "id": "rs770185977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770185977" } ], "glycoeffect": [], "start_pos": 2008, "end_pos": 2008, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109143", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2008", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2008, "end_pos": 2008, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109145", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F2008", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2009, "end_pos": 2009, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109141", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2009", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs145762096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145762096" }, { "id": "rs145762096", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145762096" }, { "id": "rs145762096", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145762096#frequency_tab" }, { "id": "rs145762096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145762096" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2009, "end_pos": 2009, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109141", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2009", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092436796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092436796" }, { "id": "rs2092436796", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092436796" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2009, "end_pos": 2009, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109142", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2009", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs145762096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145762096" }, { "id": "rs145762096", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145762096" }, { "id": "rs145762096", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145762096#frequency_tab" }, { "id": "rs145762096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145762096" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2009, "end_pos": 2009, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109141", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2009", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1300685664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300685664" }, { "id": "rs1300685664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300685664#frequency_tab" } ], "glycoeffect": [], "start_pos": 200, "end_pos": 200, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118393", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454739" }, { "id": "rs1555454739", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555454739" } ], "glycoeffect": [], "start_pos": 2011, "end_pos": 2011, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109136", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2011", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2011, "end_pos": 2011, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109135", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2011", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1444625712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444625712" }, { "id": "rs1444625712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1444625712#frequency_tab" }, { "id": "rs1444625712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1444625712" } ], "glycoeffect": [], "start_pos": 2012, "end_pos": 2012, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109133", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778658448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778658448" }, { "id": "rs778658448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778658448" }, { "id": "rs778658448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778658448" } ], "glycoeffect": [], "start_pos": 2013, "end_pos": 2013, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109130", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2013", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151790199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151790199" }, { "id": "rs2151790199", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151790199" } ], "glycoeffect": [], "start_pos": 2014, "end_pos": 2014, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109127", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2014", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs562416414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562416414" }, { "id": "rs562416414", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562416414" }, { "id": "rs562416414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562416414" }, { "id": "rs562416414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs562416414#frequency_tab" }, { "id": "rs562416414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs562416414" }, { "id": "rs562416414", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562416414" } ], "glycoeffect": [], "start_pos": 2014, "end_pos": 2014, "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109126", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2014", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs767363184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767363184" }, { "id": "rs767363184", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767363184" }, { "id": "rs767363184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767363184" }, { "id": "rs767363184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767363184#frequency_tab" }, { "id": "rs767363184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767363184" } ], "glycoeffect": [], "start_pos": 2016, "end_pos": 2016, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2016", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs542248527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542248527" }, { "id": "rs542248527", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542248527" }, { "id": "rs542248527", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542248527" }, { "id": "rs542248527", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542248527#frequency_tab" }, { "id": "rs542248527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542248527" } ], "glycoeffect": [], "start_pos": 2016, "end_pos": 2016, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109121", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542248527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542248527" }, { "id": "rs542248527", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542248527" }, { "id": "rs542248527", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542248527" }, { "id": "rs542248527", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542248527#frequency_tab" }, { "id": "rs542248527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542248527" }, { "id": "rs542248527", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542248527" } ], "glycoeffect": [], "start_pos": 2016, "end_pos": 2016, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109121", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2016", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs144768249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144768249" }, { "id": "rs144768249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144768249" }, { "id": "rs144768249", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144768249#frequency_tab" }, { "id": "rs144768249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144768249" }, { "id": "rs144768249", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144768249" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2017, "end_pos": 2017, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109117", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2017", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1453208461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453208461" }, { "id": "rs1453208461", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1453208461" } ], "glycoeffect": [], "start_pos": 2019, "end_pos": 2019, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109112", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2019", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1035554099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035554099" }, { "id": "rs1035554099", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1035554099#frequency_tab" }, { "id": "rs1035554099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1035554099" } ], "glycoeffect": [], "start_pos": 201, "end_pos": 201, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118390", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs13334842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13334842" }, { "id": "rs13334842", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs13334842" }, { "id": "rs13334842", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13334842" }, { "id": "rs13334842", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs13334842#frequency_tab" }, { "id": "rs13334842", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs13334842" } ], "glycoeffect": [], "start_pos": 201, "end_pos": 201, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118389", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H201", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1035554099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035554099" }, { "id": "rs1035554099", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1035554099#frequency_tab" }, { "id": "rs1035554099", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1035554099" } ], "glycoeffect": [], "start_pos": 201, "end_pos": 201, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118390", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151824362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151824362" } ], "glycoeffect": [], "start_pos": 201, "end_pos": 201, "sequence_org": "H", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118393", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H201", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs763131487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763131487" }, { "id": "rs763131487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763131487" }, { "id": "rs763131487", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763131487#frequency_tab" }, { "id": "rs763131487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763131487" } ], "glycoeffect": [], "start_pos": 2020, "end_pos": 2020, "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109107", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092436046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092436046" }, { "id": "rs2092436046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092436046#frequency_tab" } ], "glycoeffect": [], "start_pos": 2020, "end_pos": 2020, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109109", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092435927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092435927" }, { "id": "rs2092435927", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092435927" } ], "glycoeffect": [], "start_pos": 2021, "end_pos": 2021, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109105", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2021", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2021, "end_pos": 2021, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109105", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L2021", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781681199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781681199" }, { "id": "rs781681199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781681199" }, { "id": "rs781681199", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781681199#frequency_tab" }, { "id": "rs781681199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781681199" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2022, "end_pos": 2022, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109102", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2022", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs199943712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199943712" }, { "id": "rs199943712", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199943712" }, { "id": "rs199943712", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199943712" }, { "id": "rs199943712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199943712#frequency_tab" }, { "id": "rs199943712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199943712" } ], "glycoeffect": [], "start_pos": 2024, "end_pos": 2024, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109097", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2024", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs199943712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199943712" }, { "id": "rs199943712", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199943712" }, { "id": "rs199943712", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199943712" }, { "id": "rs199943712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199943712#frequency_tab" }, { "id": "rs199943712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199943712" } ], "glycoeffect": [], "start_pos": 2024, "end_pos": 2024, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109097", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2024", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320095490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320095490" }, { "id": "rs1320095490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320095490#frequency_tab" }, { "id": "rs1320095490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320095490" } ], "glycoeffect": [], "start_pos": 2024, "end_pos": 2024, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109096", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2024", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320095490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320095490" }, { "id": "rs1320095490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320095490#frequency_tab" }, { "id": "rs1320095490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320095490" } ], "glycoeffect": [], "start_pos": 2024, "end_pos": 2024, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109096", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2024", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs977944347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977944347" }, { "id": "rs977944347", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977944347#frequency_tab" }, { "id": "rs977944347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs977944347" } ], "glycoeffect": [], "start_pos": 2025, "end_pos": 2025, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109094", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2025", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544806221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806221" } ], "glycoeffect": [], "start_pos": 2026, "end_pos": 2026, "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109090", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2026", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1465978343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465978343" }, { "id": "rs1465978343", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465978343#frequency_tab" }, { "id": "rs1465978343", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465978343" } ], "glycoeffect": [], "start_pos": 2026, "end_pos": 2026, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109091", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2026", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755874838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755874838" }, { "id": "rs755874838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755874838" }, { "id": "rs755874838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755874838" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2027, "end_pos": 2027, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109088", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2027", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750202352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750202352" }, { "id": "rs750202352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750202352" }, { "id": "rs750202352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750202352#frequency_tab" }, { "id": "rs750202352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750202352" } ], "glycoeffect": [], "start_pos": 2027, "end_pos": 2027, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109087", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2027", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757173009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757173009" }, { "id": "rs757173009", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757173009" }, { "id": "rs757173009", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757173009#frequency_tab" }, { "id": "rs757173009", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757173009" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2028, "end_pos": 2028, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109083", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092435288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092435288" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2028, "end_pos": 2028, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109084", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2028", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092435288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092435288" }, { "id": "rs2092435288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092435288" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2028, "end_pos": 2028, "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109084", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2029, "end_pos": 2029, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109082", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T2029", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs186511379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186511379" }, { "id": "rs186511379", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186511379" }, { "id": "rs186511379", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs186511379" }, { "id": "rs186511379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs186511379#frequency_tab" }, { "id": "rs186511379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs186511379" }, { "id": "rs186511379", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs186511379" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2029, "end_pos": 2029, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109081", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2029", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1263936807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263936807" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118388", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263936807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263936807" }, { "id": "rs1263936807", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263936807#frequency_tab" }, { "id": "rs1263936807", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263936807" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118388", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092673890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092673890" }, { "id": "rs2092673890", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092673890#frequency_tab" } ], "glycoeffect": [], "start_pos": 202, "end_pos": 202, "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118387", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544806086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544806086" } ], "glycoeffect": [], "start_pos": 2030, "end_pos": 2030, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109078", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2030", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs372969038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372969038" }, { "id": "rs372969038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372969038" }, { "id": "rs372969038", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372969038#frequency_tab" }, { "id": "rs372969038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372969038" } ], "glycoeffect": [], "start_pos": 2030, "end_pos": 2030, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2030", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2031, "end_pos": 2031, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109076", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V2031", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765389584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765389584" }, { "id": "rs765389584", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765389584" }, { "id": "rs765389584", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765389584#frequency_tab" }, { "id": "rs765389584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765389584" }, { "id": "rs765389584", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765389584" } ], "glycoeffect": [], "start_pos": 2031, "end_pos": 2031, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109076", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2031", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs371032245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371032245" }, { "id": "rs371032245", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371032245" }, { "id": "rs371032245", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371032245#frequency_tab" }, { "id": "rs371032245", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371032245" } ], "glycoeffect": [], "start_pos": 2032, "end_pos": 2032, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109072", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2032", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs771364071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771364071" }, { "id": "rs771364071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771364071" }, { "id": "rs771364071", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771364071#frequency_tab" }, { "id": "rs771364071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771364071" } ], "glycoeffect": [], "start_pos": 2033, "end_pos": 2033, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2033", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs557932393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557932393" }, { "id": "rs557932393", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557932393" }, { "id": "rs557932393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557932393" }, { "id": "rs557932393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs557932393#frequency_tab" }, { "id": "rs557932393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557932393" } ], "glycoeffect": [], "start_pos": 2033, "end_pos": 2033, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A2033", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2151789912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151789912" }, { "id": "rs2151789912", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151789912" } ], "glycoeffect": [], "start_pos": 2034, "end_pos": 2034, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109067", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544805986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544805986" } ], "glycoeffect": [], "start_pos": 2034, "end_pos": 2034, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109066", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2034", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2036, "end_pos": 2036, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109059", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L2036", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2037, "end_pos": 2037, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109058", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2037", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs906663801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs906663801" }, { "id": "rs906663801", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs906663801#frequency_tab" }, { "id": "rs906663801", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs906663801" } ], "glycoeffect": [], "start_pos": 2037, "end_pos": 2037, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109056", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2037", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323560169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323560169" }, { "id": "rs1323560169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1323560169#frequency_tab" }, { "id": "rs1323560169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323560169" } ], "glycoeffect": [], "start_pos": 2037, "end_pos": 2037, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109058", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2037", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544805859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544805859" } ], "glycoeffect": [], "start_pos": 2038, "end_pos": 2038, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109054", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755747732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755747732" }, { "id": "rs755747732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755747732" }, { "id": "rs755747732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755747732#frequency_tab" }, { "id": "rs755747732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755747732" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109052", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs755747732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755747732" }, { "id": "rs755747732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755747732" }, { "id": "rs755747732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755747732#frequency_tab" }, { "id": "rs755747732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755747732" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109052", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745639624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745639624" }, { "id": "rs745639624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745639624" }, { "id": "rs745639624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745639624#frequency_tab" }, { "id": "rs745639624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745639624" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109050", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755747732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755747732" }, { "id": "rs755747732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755747732" }, { "id": "rs755747732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755747732#frequency_tab" }, { "id": "rs755747732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755747732" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109052", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092434606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092434606" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109051", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2092434606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092434606" }, { "id": "rs2092434606", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092434606#frequency_tab" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109051", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544805834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544805834" } ], "glycoeffect": [], "start_pos": 2039, "end_pos": 2039, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109053", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2039", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1457184217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457184217" }, { "id": "rs1457184217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457184217#frequency_tab" } ], "glycoeffect": [], "start_pos": 203, "end_pos": 203, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118385", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs757093617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757093617" }, { "id": "rs757093617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757093617" }, { "id": "rs757093617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757093617#frequency_tab" }, { "id": "rs757093617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757093617" } ], "glycoeffect": [], "start_pos": 2041, "end_pos": 2041, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109046", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2041", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs751486062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751486062" }, { "id": "rs751486062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751486062" } ], "glycoeffect": [], "start_pos": 2041, "end_pos": 2041, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109045", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2041", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs556681288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556681288" }, { "id": "rs556681288", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556681288" }, { "id": "rs556681288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556681288" }, { "id": "rs556681288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556681288#frequency_tab" }, { "id": "rs556681288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556681288" } ], "glycoeffect": [], "start_pos": 2042, "end_pos": 2042, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109043", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2042", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2042, "end_pos": 2042, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109043", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2042", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs556681288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556681288" }, { "id": "rs556681288", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556681288" }, { "id": "rs556681288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556681288" }, { "id": "rs556681288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556681288#frequency_tab" }, { "id": "rs556681288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556681288" }, { "id": "rs556681288", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556681288" } ], "glycoeffect": [], "start_pos": 2042, "end_pos": 2042, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109043", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2042", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs752795050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752795050" }, { "id": "rs752795050", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752795050" }, { "id": "rs752795050", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752795050#frequency_tab" }, { "id": "rs752795050", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752795050" } ], "glycoeffect": [], "start_pos": 2042, "end_pos": 2042, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2042", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092434212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092434212" }, { "id": "rs2092434212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092434212#frequency_tab" } ], "glycoeffect": [], "start_pos": 2043, "end_pos": 2043, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109040", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2043", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544805632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544805632" } ], "glycoeffect": [], "start_pos": 2044, "end_pos": 2044, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109037", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544805619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544805619" } ], "glycoeffect": [], "start_pos": 2044, "end_pos": 2044, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109036", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2044", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs544753708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544753708" }, { "id": "rs544753708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544753708#frequency_tab" }, { "id": "rs544753708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544753708" } ], "glycoeffect": [], "start_pos": 2045, "end_pos": 2045, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109034", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs544753708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544753708" }, { "id": "rs544753708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544753708#frequency_tab" }, { "id": "rs544753708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544753708" } ], "glycoeffect": [], "start_pos": 2045, "end_pos": 2045, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109034", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs544753708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544753708" }, { "id": "rs544753708", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544753708#frequency_tab" }, { "id": "rs544753708", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544753708" } ], "glycoeffect": [], "start_pos": 2045, "end_pos": 2045, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092434001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092434001" }, { "id": "rs2092434001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092434001#frequency_tab" } ], "glycoeffect": [], "start_pos": 2045, "end_pos": 2045, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2045", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168430714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168430714" }, { "id": "rs1168430714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1168430714#frequency_tab" }, { "id": "rs1168430714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168430714" } ], "glycoeffect": [], "start_pos": 2046, "end_pos": 2046, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109030", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2046", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092433875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092433875" } ], "glycoeffect": [], "start_pos": 2046, "end_pos": 2046, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109030", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2046", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2047, "end_pos": 2047, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109028", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2047", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2544805508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544805508" } ], "glycoeffect": [], "start_pos": 2047, "end_pos": 2047, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109028", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398313594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398313594" }, { "id": "rs1398313594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398313594#frequency_tab" }, { "id": "rs1398313594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398313594" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2048, "end_pos": 2048, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109025", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2048", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402895683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402895683" }, { "id": "rs1402895683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402895683#frequency_tab" }, { "id": "rs1402895683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402895683" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2048, "end_pos": 2048, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109024", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2048", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2049, "end_pos": 2049, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109022", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2049", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs369880118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369880118" }, { "id": "rs369880118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369880118" }, { "id": "rs369880118", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369880118#frequency_tab" }, { "id": "rs369880118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369880118" } ], "glycoeffect": [], "start_pos": 2049, "end_pos": 2049, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109022", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2049", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376069979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376069979" }, { "id": "rs376069979", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376069979" }, { "id": "rs376069979", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376069979" }, { "id": "rs376069979", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376069979#frequency_tab" }, { "id": "rs376069979", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376069979" } ], "glycoeffect": [], "start_pos": 2051, "end_pos": 2051, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109016", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "R2051", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs748762026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748762026" }, { "id": "rs748762026", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748762026" }, { "id": "rs748762026", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748762026#frequency_tab" }, { "id": "rs748762026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748762026" }, { "id": "rs748762026", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748762026" } ], "glycoeffect": [], "start_pos": 2051, "end_pos": 2051, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2109015", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2051", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2092433132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092433132" }, { "id": "rs2092433132", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092433132" } ], "glycoeffect": [], "start_pos": 2053, "end_pos": 2053, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109009", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373132361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373132361" }, { "id": "rs373132361", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373132361" }, { "id": "rs373132361", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373132361#frequency_tab" }, { "id": "rs373132361", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373132361" } ], "glycoeffect": [], "start_pos": 2053, "end_pos": 2053, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109010", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139419984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139419984" }, { "id": "rs139419984", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139419984" }, { "id": "rs139419984", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139419984" }, { "id": "rs139419984", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139419984#frequency_tab" }, { "id": "rs139419984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139419984" } ], "glycoeffect": [], "start_pos": 2054, "end_pos": 2054, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109007", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "V2054", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770711019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770711019" }, { "id": "rs770711019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770711019" }, { "id": "rs770711019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770711019#frequency_tab" }, { "id": "rs770711019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770711019" } ], "glycoeffect": [], "start_pos": 2055, "end_pos": 2055, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109004", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2055", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1183800563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183800563" }, { "id": "rs1183800563", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1183800563#frequency_tab" }, { "id": "rs1183800563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1183800563" } ], "glycoeffect": [], "start_pos": 2056, "end_pos": 2056, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108999", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092432862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092432862" }, { "id": "rs2092432862", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092432862" } ], "glycoeffect": [], "start_pos": 2056, "end_pos": 2056, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109001", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151789587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151789587" } ], "glycoeffect": [], "start_pos": 2056, "end_pos": 2056, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2109003", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2056", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092432712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092432712" }, { "id": "rs2092432712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092432712" } ], "glycoeffect": [], "start_pos": 2057, "end_pos": 2057, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108997", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567193959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567193959" }, { "id": "rs1567193959", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567193959" } ], "glycoeffect": [], "start_pos": 2057, "end_pos": 2057, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108998", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs977996716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977996716" }, { "id": "rs977996716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977996716#frequency_tab" }, { "id": "rs977996716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs977996716" } ], "glycoeffect": [], "start_pos": 2058, "end_pos": 2058, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108995", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746817602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746817602" }, { "id": "rs746817602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746817602" }, { "id": "rs746817602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746817602#frequency_tab" }, { "id": "rs746817602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746817602" } ], "glycoeffect": [], "start_pos": 2058, "end_pos": 2058, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108994", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746817602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746817602" } ], "glycoeffect": [], "start_pos": 2058, "end_pos": 2058, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108994", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746817602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746817602" }, { "id": "rs746817602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746817602" }, { "id": "rs746817602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746817602#frequency_tab" }, { "id": "rs746817602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746817602" } ], "glycoeffect": [], "start_pos": 2058, "end_pos": 2058, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108994", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376013915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376013915" }, { "id": "rs376013915", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376013915" }, { "id": "rs376013915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376013915" }, { "id": "rs376013915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376013915#frequency_tab" }, { "id": "rs376013915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376013915" } ], "glycoeffect": [], "start_pos": 2059, "end_pos": 2059, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108990", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "D2059", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150894453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150894453" }, { "id": "rs150894453", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150894453" }, { "id": "rs150894453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150894453#frequency_tab" }, { "id": "rs150894453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150894453" } ], "glycoeffect": [], "start_pos": 2059, "end_pos": 2059, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108992", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2059", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753999046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753999046" }, { "id": "rs753999046", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753999046" }, { "id": "rs753999046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753999046#frequency_tab" }, { "id": "rs753999046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753999046" } ], "glycoeffect": [], "start_pos": 2060, "end_pos": 2060, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108988", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2060", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs371767717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371767717" }, { "id": "rs371767717", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371767717" }, { "id": "rs371767717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371767717" }, { "id": "rs371767717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371767717#frequency_tab" }, { "id": "rs371767717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371767717" }, { "id": "rs371767717", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371767717" } ], "glycoeffect": [], "start_pos": 2060, "end_pos": 2060, "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108989", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A2060", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs753999046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753999046" }, { "id": "rs753999046", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753999046" }, { "id": "rs753999046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753999046#frequency_tab" }, { "id": "rs753999046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753999046" } ], "glycoeffect": [], "start_pos": 2060, "end_pos": 2060, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108988", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2060", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs369627816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369627816" }, { "id": "rs369627816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369627816" }, { "id": "rs369627816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369627816#frequency_tab" }, { "id": "rs369627816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369627816" }, { "id": "rs369627816", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369627816" } ], "glycoeffect": [], "start_pos": 2061, "end_pos": 2061, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108986", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2061", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs750843149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750843149" }, { "id": "rs750843149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750843149" }, { "id": "rs750843149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750843149#frequency_tab" }, { "id": "rs750843149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750843149" } ], "glycoeffect": [], "start_pos": 2062, "end_pos": 2062, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108983", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2062", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2062, "end_pos": 2062, "subjects_tested": "1557", "subjects_positive": "5", "frequency": "0.3", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108981", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2062", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs750843149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750843149" }, { "id": "rs750843149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750843149" }, { "id": "rs750843149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750843149#frequency_tab" }, { "id": "rs750843149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750843149" } ], "glycoeffect": [], "start_pos": 2062, "end_pos": 2062, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108983", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201062488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062488" }, { "id": "rs201062488", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201062488" }, { "id": "rs201062488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062488" }, { "id": "rs201062488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201062488#frequency_tab" }, { "id": "rs201062488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201062488" } ], "glycoeffect": [], "start_pos": 2062, "end_pos": 2062, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108982", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q2062", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs201062488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062488" }, { "id": "rs201062488", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201062488" }, { "id": "rs201062488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201062488" }, { "id": "rs201062488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201062488#frequency_tab" }, { "id": "rs201062488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201062488" } ], "glycoeffect": [], "start_pos": 2062, "end_pos": 2062, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108982", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "Q2062", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751773149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751773149" }, { "id": "rs751773149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751773149" }, { "id": "rs751773149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751773149#frequency_tab" }, { "id": "rs751773149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751773149" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2063, "end_pos": 2063, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108979", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544804974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544804974" } ], "glycoeffect": [], "start_pos": 2064, "end_pos": 2064, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108976", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2064", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092431859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092431859" }, { "id": "rs2092431859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092431859#frequency_tab" }, { "id": "rs2092431859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092431859" } ], "glycoeffect": [], "start_pos": 2064, "end_pos": 2064, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108977", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2064", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759153885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759153885" }, { "id": "rs759153885", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759153885" }, { "id": "rs759153885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759153885#frequency_tab" }, { "id": "rs759153885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759153885" } ], "glycoeffect": [], "start_pos": 2065, "end_pos": 2065, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108974", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776082045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776082045" }, { "id": "rs776082045", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776082045" }, { "id": "rs776082045", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776082045#frequency_tab" }, { "id": "rs776082045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776082045" } ], "glycoeffect": [], "start_pos": 2065, "end_pos": 2065, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108973", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454620" } ], "glycoeffect": [], "start_pos": 2065, "end_pos": 2065, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108975", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2065", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454606" }, { "id": "rs1555454606", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555454606" } ], "glycoeffect": [], "start_pos": 2066, "end_pos": 2066, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108970", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2066", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2066, "end_pos": 2066, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108971", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L2066", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2092431000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092431000" } ], "glycoeffect": [], "start_pos": 2066, "end_pos": 2066, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108963_2108975", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2066", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454604" }, { "id": "rs1555454604", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555454604" } ], "glycoeffect": [], "start_pos": 2067, "end_pos": 2067, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108968", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2067", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs777512902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777512902" }, { "id": "rs777512902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777512902" }, { "id": "rs777512902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777512902" } ], "glycoeffect": [], "start_pos": 2067, "end_pos": 2067, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108966", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368629854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368629854" }, { "id": "rs368629854", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368629854" }, { "id": "rs368629854", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368629854#frequency_tab" }, { "id": "rs368629854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368629854" } ], "glycoeffect": [], "start_pos": 2067, "end_pos": 2067, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108967", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2067", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771902961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771902961" }, { "id": "rs771902961", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771902961" }, { "id": "rs771902961", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771902961" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2068, "end_pos": 2068, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108964", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2068", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092431105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092431105" }, { "id": "rs2092431105", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092431105" } ], "glycoeffect": [], "start_pos": 2069, "end_pos": 2069, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108961", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148363380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148363380" }, { "id": "rs148363380", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148363380" }, { "id": "rs148363380", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148363380" }, { "id": "rs148363380", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148363380#frequency_tab" }, { "id": "rs148363380", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148363380" } ], "glycoeffect": [], "start_pos": 2069, "end_pos": 2069, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108962", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G2069", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544880759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544880759" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118376", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q206", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092673815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092673815" }, { "id": "rs2092673815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092673815#frequency_tab" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118374", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1310705960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310705960" }, { "id": "rs1310705960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310705960" } ], "glycoeffect": [], "start_pos": 206, "end_pos": 206, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118375", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs754944119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754944119" }, { "id": "rs754944119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754944119" }, { "id": "rs754944119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754944119#frequency_tab" }, { "id": "rs754944119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754944119" } ], "glycoeffect": [], "start_pos": 2070, "end_pos": 2070, "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108958", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P2070", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs1224958675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224958675" }, { "id": "rs1224958675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224958675#frequency_tab" }, { "id": "rs1224958675", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1224958675" } ], "glycoeffect": [], "start_pos": 2070, "end_pos": 2070, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108959", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2070", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs780377250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780377250" }, { "id": "rs780377250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780377250" }, { "id": "rs780377250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780377250#frequency_tab" }, { "id": "rs780377250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780377250" } ], "glycoeffect": [], "start_pos": 2071, "end_pos": 2071, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C2071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780377250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780377250" }, { "id": "rs780377250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780377250" }, { "id": "rs780377250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780377250#frequency_tab" }, { "id": "rs780377250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780377250" } ], "glycoeffect": [], "start_pos": 2071, "end_pos": 2071, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C2071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151789316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151789316" } ], "glycoeffect": [], "start_pos": 2071, "end_pos": 2071, "sequence_org": "C", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108960", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C2071", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750718256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750718256" }, { "id": "rs750718256", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750718256" }, { "id": "rs750718256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750718256" } ], "glycoeffect": [], "start_pos": 2072, "end_pos": 2072, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108953", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2072", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1328525615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328525615" }, { "id": "rs1328525615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328525615" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2073, "end_pos": 2073, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108950", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2073", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1328525615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328525615" }, { "id": "rs1328525615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328525615" } ], "glycoeffect": [], "start_pos": 2073, "end_pos": 2073, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108950", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2073", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752007034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752007034" }, { "id": "rs752007034", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752007034" }, { "id": "rs752007034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752007034#frequency_tab" }, { "id": "rs752007034", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752007034" } ], "glycoeffect": [], "start_pos": 2075, "end_pos": 2075, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108944", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2075", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200930978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200930978" }, { "id": "rs200930978", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200930978" }, { "id": "rs200930978", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200930978#frequency_tab" }, { "id": "rs200930978", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200930978" } ], "glycoeffect": [], "start_pos": 2075, "end_pos": 2075, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108943", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2075", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200930978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200930978" } ], "glycoeffect": [], "start_pos": 2075, "end_pos": 2075, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108943", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2075", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322095511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322095511" }, { "id": "rs1322095511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322095511" } ], "glycoeffect": [], "start_pos": 2077, "end_pos": 2077, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108938", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322095511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322095511" }, { "id": "rs1322095511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322095511" } ], "glycoeffect": [], "start_pos": 2077, "end_pos": 2077, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142493877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142493877" }, { "id": "rs142493877", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142493877" }, { "id": "rs142493877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142493877#frequency_tab" }, { "id": "rs142493877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142493877" } ], "glycoeffect": [], "start_pos": 2077, "end_pos": 2077, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108937", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2077", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs771845759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771845759" }, { "id": "rs771845759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771845759" }, { "id": "rs771845759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771845759" } ], "glycoeffect": [], "start_pos": 2078, "end_pos": 2078, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108934", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2078", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771845759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771845759" }, { "id": "rs771845759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771845759" }, { "id": "rs771845759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771845759" } ], "glycoeffect": [], "start_pos": 2078, "end_pos": 2078, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108934", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2078", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092673774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092673774" }, { "id": "rs2092673774", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092673774" } ], "glycoeffect": [], "start_pos": 207, "end_pos": 207, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118372", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1277994025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277994025" }, { "id": "rs1277994025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1277994025" } ], "glycoeffect": [], "start_pos": 207, "end_pos": 207, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118373", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423043356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423043356" }, { "id": "rs1423043356", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423043356#frequency_tab" }, { "id": "rs1423043356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423043356" } ], "glycoeffect": [], "start_pos": 2081, "end_pos": 2081, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108926", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423043356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423043356" }, { "id": "rs1423043356", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423043356#frequency_tab" }, { "id": "rs1423043356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423043356" } ], "glycoeffect": [], "start_pos": 2081, "end_pos": 2081, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108926", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092429972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092429972" }, { "id": "rs2092429972", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2092429972" }, { "id": "rs2092429972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092429972#frequency_tab" }, { "id": "rs2092429972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092429972" } ], "glycoeffect": [], "start_pos": 2081, "end_pos": 2081, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108925", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs377235337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377235337" }, { "id": "rs377235337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377235337" }, { "id": "rs377235337", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377235337#frequency_tab" }, { "id": "rs377235337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377235337" }, { "id": "rs377235337", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377235337" } ], "glycoeffect": [], "start_pos": 2082, "end_pos": 2082, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108923", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2082", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1249694845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249694845" }, { "id": "rs1249694845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1249694845#frequency_tab" }, { "id": "rs1249694845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249694845" } ], "glycoeffect": [], "start_pos": 2082, "end_pos": 2082, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108922", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2082", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1457451281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457451281" }, { "id": "rs1457451281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457451281#frequency_tab" }, { "id": "rs1457451281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457451281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2083, "end_pos": 2083, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108920", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2083", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1383930225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383930225" }, { "id": "rs1383930225", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1383930225#frequency_tab" }, { "id": "rs1383930225", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1383930225" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2083, "end_pos": 2083, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2083", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1243820650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243820650" }, { "id": "rs1243820650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243820650" } ], "glycoeffect": [], "start_pos": 2085, "end_pos": 2085, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108914", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2085", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780254473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780254473" }, { "id": "rs780254473", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780254473" }, { "id": "rs780254473", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780254473#frequency_tab" }, { "id": "rs780254473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780254473" } ], "glycoeffect": [], "start_pos": 2085, "end_pos": 2085, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108913", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2085", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092429498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092429498" }, { "id": "rs2092429498", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092429498#frequency_tab" }, { "id": "rs2092429498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092429498" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2086, "end_pos": 2086, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108911", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs922461531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs922461531" }, { "id": "rs922461531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs922461531#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2086, "end_pos": 2086, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756315741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756315741" }, { "id": "rs756315741", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756315741" }, { "id": "rs756315741", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756315741" } ], "glycoeffect": [], "start_pos": 2087, "end_pos": 2087, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108908", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295883956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295883956" }, { "id": "rs1295883956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295883956#frequency_tab" }, { "id": "rs1295883956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295883956" } ], "glycoeffect": [], "start_pos": 2088, "end_pos": 2088, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108904", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2088", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295883956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295883956" }, { "id": "rs1295883956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295883956#frequency_tab" }, { "id": "rs1295883956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295883956" }, { "id": "rs1295883956", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1295883956" } ], "glycoeffect": [], "start_pos": 2088, "end_pos": 2088, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108904", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2088", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs781630003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781630003" }, { "id": "rs781630003", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781630003" }, { "id": "rs781630003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781630003#frequency_tab" }, { "id": "rs781630003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781630003" } ], "glycoeffect": [], "start_pos": 2088, "end_pos": 2088, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108905", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2088", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751969265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751969265" }, { "id": "rs751969265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751969265" }, { "id": "rs751969265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751969265#frequency_tab" }, { "id": "rs751969265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751969265" } ], "glycoeffect": [], "start_pos": 2089, "end_pos": 2089, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108902", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2089", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764465921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764465921" }, { "id": "rs764465921", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764465921" }, { "id": "rs764465921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764465921#frequency_tab" }, { "id": "rs764465921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764465921" } ], "glycoeffect": [], "start_pos": 2089, "end_pos": 2089, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2089", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215297714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215297714" }, { "id": "rs1215297714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215297714" } ], "glycoeffect": [], "start_pos": 208, "end_pos": 208, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118369", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1449648091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449648091" }, { "id": "rs1449648091", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1449648091" }, { "id": "rs1449648091", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449648091#frequency_tab" }, { "id": "rs1449648091", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449648091" } ], "glycoeffect": [], "start_pos": 2091, "end_pos": 2091, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108896", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567193495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567193495" }, { "id": "rs1567193495", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1567193495#frequency_tab" } ], "glycoeffect": [], "start_pos": 2091, "end_pos": 2091, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1333385421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333385421" }, { "id": "rs1333385421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333385421" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2092, "end_pos": 2092, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108893", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2092", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1430359145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430359145" } ], "glycoeffect": [], "start_pos": 2093, "end_pos": 2093, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108890", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1391723764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391723764" }, { "id": "rs1391723764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1391723764#frequency_tab" }, { "id": "rs1391723764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391723764" } ], "glycoeffect": [], "start_pos": 2093, "end_pos": 2093, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108888", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371109538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371109538" }, { "id": "rs371109538", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371109538" }, { "id": "rs371109538", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371109538#frequency_tab" }, { "id": "rs371109538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371109538" } ], "glycoeffect": [], "start_pos": 2093, "end_pos": 2093, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108889", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1430359145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430359145" }, { "id": "rs1430359145", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1430359145#frequency_tab" }, { "id": "rs1430359145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430359145" } ], "glycoeffect": [], "start_pos": 2093, "end_pos": 2093, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108890", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2093", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151788870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151788870" }, { "id": "rs2151788870", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151788870" }, { "id": "rs2544804084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544804084" } ], "glycoeffect": [], "start_pos": 2094, "end_pos": 2094, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108885", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W2094", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2094, "end_pos": 2094, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108886", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "W2094", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765861287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765861287" }, { "id": "rs765861287", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765861287" }, { "id": "rs765861287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765861287#frequency_tab" }, { "id": "rs765861287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765861287" } ], "glycoeffect": [], "start_pos": 2095, "end_pos": 2095, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108882", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753250956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753250956" }, { "id": "rs753250956", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753250956" }, { "id": "rs753250956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753250956" } ], "glycoeffect": [], "start_pos": 2095, "end_pos": 2095, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108883", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2095", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596552090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596552090" }, { "id": "rs1596552090", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596552090" } ], "glycoeffect": [], "start_pos": 2096, "end_pos": 2096, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108880", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2096", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2544804049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544804049" } ], "glycoeffect": [], "start_pos": 2096, "end_pos": 2096, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108878_2108879", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2096", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092428681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092428681" }, { "id": "rs2092428681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092428681#frequency_tab" } ], "glycoeffect": [], "start_pos": 2097, "end_pos": 2097, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108878", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2097", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151788839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151788839" }, { "id": "rs2151788839", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151788839" } ], "glycoeffect": [], "start_pos": 2098, "end_pos": 2098, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108874", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2098", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092428637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092428637" }, { "id": "rs2092428637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092428637#frequency_tab" } ], "glycoeffect": [], "start_pos": 2099, "end_pos": 2099, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108872", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2099", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1199070939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199070939" }, { "id": "rs1199070939", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1199070939#frequency_tab" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118367", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092941594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092941594" }, { "id": "rs2092941594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092941594#frequency_tab" }, { "id": "rs2092941594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092941594" } ], "glycoeffect": [], "start_pos": 20, "end_pos": 20, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2135631", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G20", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs539793378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539793378" }, { "id": "rs539793378", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539793378" }, { "id": "rs539793378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539793378" }, { "id": "rs539793378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539793378#frequency_tab" }, { "id": "rs539793378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539793378" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2100, "end_pos": 2100, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108868", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S2100", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs539793378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539793378" }, { "id": "rs539793378", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539793378" }, { "id": "rs539793378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539793378" }, { "id": "rs539793378", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539793378#frequency_tab" }, { "id": "rs539793378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539793378" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2100, "end_pos": 2100, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108868", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S2100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482293638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482293638" }, { "id": "rs1482293638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482293638" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2100, "end_pos": 2100, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108869", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774235604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774235604" }, { "id": "rs774235604", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774235604" }, { "id": "rs774235604", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774235604" }, { "id": "rs774235604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774235604#frequency_tab" } ], "glycoeffect": [], "start_pos": 2101, "end_pos": 2101, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108865", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774235604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774235604" }, { "id": "rs774235604", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774235604" }, { "id": "rs774235604", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774235604" }, { "id": "rs774235604", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774235604#frequency_tab" } ], "glycoeffect": [], "start_pos": 2101, "end_pos": 2101, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108865", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs145266746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145266746" }, { "id": "rs145266746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145266746" }, { "id": "rs145266746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145266746#frequency_tab" }, { "id": "rs145266746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145266746" } ], "glycoeffect": [], "start_pos": 2101, "end_pos": 2101, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108866", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2101", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1555454512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454512" }, { "id": "rs1555454512", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1555454512#frequency_tab" } ], "glycoeffect": [], "start_pos": 2103, "end_pos": 2103, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454512" }, { "id": "rs1555454512", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1555454512#frequency_tab" } ], "glycoeffect": [], "start_pos": 2103, "end_pos": 2103, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108860", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228209282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228209282" }, { "id": "rs1228209282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228209282#frequency_tab" }, { "id": "rs1228209282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228209282" } ], "glycoeffect": [], "start_pos": 2103, "end_pos": 2103, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108859", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377720469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377720469" }, { "id": "rs377720469", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377720469" }, { "id": "rs377720469", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377720469#frequency_tab" }, { "id": "rs377720469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377720469" } ], "glycoeffect": [], "start_pos": 2104, "end_pos": 2104, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108856", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749231131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749231131" }, { "id": "rs749231131", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749231131" }, { "id": "rs749231131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749231131#frequency_tab" }, { "id": "rs749231131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749231131" } ], "glycoeffect": [], "start_pos": 2104, "end_pos": 2104, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108857", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1229710301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1229710301" }, { "id": "rs1229710301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1229710301" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2105, "end_pos": 2105, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108854", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2105", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1341288890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341288890" }, { "id": "rs1341288890", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341288890" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2105, "end_pos": 2105, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108853", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769990251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769990251" }, { "id": "rs769990251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769990251" }, { "id": "rs769990251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769990251" } ], "glycoeffect": [], "start_pos": 2106, "end_pos": 2106, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108850", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263644093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263644093" }, { "id": "rs1263644093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263644093#frequency_tab" } ], "glycoeffect": [], "start_pos": 2106, "end_pos": 2106, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108851", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544803846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544803846" } ], "glycoeffect": [], "start_pos": 2107, "end_pos": 2107, "sequence_org": "E", "sequence_mut": "HR*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108849_2108855", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1026516845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1026516845" }, { "id": "rs1026516845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1026516845#frequency_tab" }, { "id": "rs1026516845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1026516845" } ], "glycoeffect": [], "start_pos": 2107, "end_pos": 2107, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108848", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E2107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232033088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232033088" }, { "id": "rs1232033088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232033088#frequency_tab" }, { "id": "rs1232033088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232033088" } ], "glycoeffect": [], "start_pos": 2108, "end_pos": 2108, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232033088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232033088" }, { "id": "rs1232033088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232033088#frequency_tab" }, { "id": "rs1232033088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232033088" } ], "glycoeffect": [], "start_pos": 2108, "end_pos": 2108, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092427579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092427579" } ], "glycoeffect": [], "start_pos": 2108, "end_pos": 2108, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108837_2108844delinsAGGTAGG", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781509436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781509436" }, { "id": "rs781509436", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781509436" }, { "id": "rs781509436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781509436" } ], "glycoeffect": [], "start_pos": 2109, "end_pos": 2109, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108842", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757528429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757528429" }, { "id": "rs757528429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757528429" }, { "id": "rs757528429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757528429#frequency_tab" }, { "id": "rs757528429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757528429" } ], "glycoeffect": [], "start_pos": 2109, "end_pos": 2109, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108841", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544880665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544880665" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118364", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C210", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092673697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092673697" }, { "id": "rs2092673697", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092673697" } ], "glycoeffect": [], "start_pos": 210, "end_pos": 210, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C210", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1266395140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266395140" }, { "id": "rs1266395140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1266395140#frequency_tab" } ], "glycoeffect": [], "start_pos": 2110, "end_pos": 2110, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108838", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747234657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747234657" }, { "id": "rs747234657", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747234657" }, { "id": "rs747234657", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747234657" } ], "glycoeffect": [], "start_pos": 2110, "end_pos": 2110, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108839", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1266395140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266395140" }, { "id": "rs1266395140", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1266395140#frequency_tab" } ], "glycoeffect": [], "start_pos": 2110, "end_pos": 2110, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108838", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138672759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138672759" }, { "id": "rs138672759", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138672759" }, { "id": "rs138672759", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138672759" }, { "id": "rs138672759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138672759#frequency_tab" }, { "id": "rs138672759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138672759" } ], "glycoeffect": [], "start_pos": 2111, "end_pos": 2111, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108836", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000981162", "site_lbl": "E2111", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1596551934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596551934" }, { "id": "rs1596551934", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596551934" } ], "glycoeffect": [], "start_pos": 2112, "end_pos": 2112, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108832", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2112", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092427386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092427386" }, { "id": "rs2092427386", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092427386" } ], "glycoeffect": [], "start_pos": 2112, "end_pos": 2112, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108833", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H2112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs963838498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs963838498" }, { "id": "rs963838498", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs963838498#frequency_tab" }, { "id": "rs963838498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs963838498" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2113, "end_pos": 2113, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108829", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092427197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092427197" }, { "id": "rs2092427197", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092427197" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2114, "end_pos": 2114, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108826", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092427097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092427097" }, { "id": "rs2092427097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092427097#frequency_tab" }, { "id": "rs2092427097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092427097" } ], "glycoeffect": [], "start_pos": 2116, "end_pos": 2116, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108820", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462832211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462832211" }, { "id": "rs1462832211", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1462832211" } ], "glycoeffect": [], "start_pos": 2116, "end_pos": 2116, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108819", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1183077434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1183077434" }, { "id": "rs1183077434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1183077434#frequency_tab" }, { "id": "rs1183077434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1183077434" } ], "glycoeffect": [], "start_pos": 2116, "end_pos": 2116, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108821", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544803642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544803642" } ], "glycoeffect": [], "start_pos": 2116, "end_pos": 2116, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108819_2108825", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2116", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1473852769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473852769" }, { "id": "rs1473852769", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1473852769#frequency_tab" }, { "id": "rs1473852769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1473852769" } ], "glycoeffect": [], "start_pos": 2117, "end_pos": 2117, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108817", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204852446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204852446" }, { "id": "rs1204852446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204852446" } ], "glycoeffect": [], "start_pos": 2118, "end_pos": 2118, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108815", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G2118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1267632239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267632239" }, { "id": "rs1267632239", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267632239#frequency_tab" }, { "id": "rs1267632239", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267632239" } ], "glycoeffect": [], "start_pos": 2119, "end_pos": 2119, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108810", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755560531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755560531" }, { "id": "rs755560531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755560531" }, { "id": "rs755560531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755560531#frequency_tab" }, { "id": "rs755560531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755560531" } ], "glycoeffect": [], "start_pos": 2119, "end_pos": 2119, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108811", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2119", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2151824295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151824295" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 211, "end_pos": 211, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118361_2118364", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S211", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs1404404094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404404094" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2120, "end_pos": 2120, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108807", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2120", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs544427622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544427622" }, { "id": "rs544427622", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544427622" }, { "id": "rs544427622", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544427622" }, { "id": "rs544427622", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544427622#frequency_tab" }, { "id": "rs544427622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544427622" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108806", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs544427622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544427622" }, { "id": "rs544427622", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544427622" }, { "id": "rs544427622", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544427622" }, { "id": "rs544427622", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544427622#frequency_tab" }, { "id": "rs544427622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544427622" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108806", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs575326053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575326053" }, { "id": "rs575326053", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575326053" }, { "id": "rs575326053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575326053" }, { "id": "rs575326053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs575326053#frequency_tab" }, { "id": "rs575326053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs575326053" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108805", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108805", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2121", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs544427622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544427622" }, { "id": "rs544427622", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs544427622" }, { "id": "rs544427622", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs544427622" }, { "id": "rs544427622", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs544427622#frequency_tab" }, { "id": "rs544427622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs544427622" } ], "glycoeffect": [], "start_pos": 2121, "end_pos": 2121, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108806", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R2121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751220995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751220995" }, { "id": "rs751220995", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751220995" }, { "id": "rs751220995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751220995#frequency_tab" }, { "id": "rs751220995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751220995" } ], "glycoeffect": [], "start_pos": 2122, "end_pos": 2122, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108803", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751220995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751220995" }, { "id": "rs751220995", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751220995" }, { "id": "rs751220995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751220995#frequency_tab" }, { "id": "rs751220995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751220995" } ], "glycoeffect": [], "start_pos": 2122, "end_pos": 2122, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108803", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762911981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762911981" }, { "id": "rs762911981", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762911981" }, { "id": "rs762911981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762911981" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108800", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2123", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs762911981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762911981" }, { "id": "rs762911981", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762911981" }, { "id": "rs762911981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762911981" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108800", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286336649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286336649" }, { "id": "rs1286336649", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286336649" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108798", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762911981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762911981" }, { "id": "rs762911981", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762911981" }, { "id": "rs762911981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762911981" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108800", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1207083731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207083731" }, { "id": "rs1207083731", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1207083731#frequency_tab" } ], "glycoeffect": [], "start_pos": 2123, "end_pos": 2123, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108799", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2123", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536737125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536737125" }, { "id": "rs536737125", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536737125" }, { "id": "rs536737125", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536737125" }, { "id": "rs536737125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536737125" } ], "glycoeffect": [], "start_pos": 2124, "end_pos": 2124, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108797", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs536737125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536737125" }, { "id": "rs536737125", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536737125" }, { "id": "rs536737125", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536737125" }, { "id": "rs536737125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536737125" } ], "glycoeffect": [], "start_pos": 2124, "end_pos": 2124, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108797", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs997918453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs997918453" }, { "id": "rs997918453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs997918453#frequency_tab" }, { "id": "rs997918453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs997918453" } ], "glycoeffect": [], "start_pos": 2126, "end_pos": 2126, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108791", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs997918453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs997918453" }, { "id": "rs997918453", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs997918453#frequency_tab" }, { "id": "rs997918453", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs997918453" } ], "glycoeffect": [], "start_pos": 2126, "end_pos": 2126, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs574142158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574142158" }, { "id": "rs574142158", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs574142158" }, { "id": "rs574142158", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574142158" }, { "id": "rs574142158", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs574142158#frequency_tab" }, { "id": "rs574142158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574142158" } ], "glycoeffect": [], "start_pos": 2126, "end_pos": 2126, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108790", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2126", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2151788281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151788281" }, { "id": "rs2151788281", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151788281" } ], "glycoeffect": [], "start_pos": 2128, "end_pos": 2128, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2128", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1247882278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247882278" }, { "id": "rs1247882278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247882278#frequency_tab" } ], "glycoeffect": [], "start_pos": 2128, "end_pos": 2128, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108783", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2128", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092426089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092426089" }, { "id": "rs2092426089", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092426089" } ], "glycoeffect": [], "start_pos": 2128, "end_pos": 2128, "sequence_org": "N", "sequence_mut": "KAASQ*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108783_2108784insGCTCCCTCCTCCTGCTACTGGGATGCA", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2544803461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544803461" } ], "glycoeffect": [], "start_pos": 2128, "end_pos": 2128, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108784", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2128", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2151788281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151788281" }, { "id": "rs2151788281", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151788281" } ], "glycoeffect": [], "start_pos": 2128, "end_pos": 2128, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108785", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770961326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770961326" }, { "id": "rs770961326", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770961326" }, { "id": "rs770961326", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770961326" } ], "glycoeffect": [], "start_pos": 2129, "end_pos": 2129, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108782", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs930784426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930784426" }, { "id": "rs930784426", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs930784426#frequency_tab" }, { "id": "rs930784426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs930784426" } ], "glycoeffect": [], "start_pos": 212, "end_pos": 212, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2118358", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A212", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs2544803423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2544803423" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2131, "end_pos": 2131, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108775", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2151788244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151788244" }, { "id": "rs2151788244", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151788244" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2131, "end_pos": 2131, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108776", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150154235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150154235" }, { "id": "rs150154235", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150154235" }, { "id": "rs150154235", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150154235" }, { "id": "rs150154235", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150154235#frequency_tab" }, { "id": "rs150154235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150154235" } ], "glycoeffect": [], "start_pos": 2132, "end_pos": 2132, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108772", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2132", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110860", "recommended_name": { "id": "DOID:0110860", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110860", "name": "polycystic kidney disease 3", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3." }, "synonyms": [ { "id": "DOID:0110860", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110860", "name": "Polycystic Kidney Disease, Adult, Type III", "description": "" }, { "id": "DOID:0110860", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110860", "name": "APKD3", "description": "" }, { "id": "DOID:0110860", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110860", "name": "PKD3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "polycystic kidney disease 3 with or without polycystic liver disease", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "APKD3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "Apkd3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "GANAB autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "PKD3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "Pkd3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "autosomal dominant polycystic kidney disease caused by mutation in GANAB", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "polycystic kidney disease 3 with or without polycystic liver disease", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "polycystic kidney disease 3, autosomal dominant", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "polycystic kidney disease type 3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "polycystic kidney disease, adult, type 3", "description": "" }, { "id": "MONDO:0010916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916", "name": "polycystic kidney disease, type 3", "description": "" }, { "id": "MIM:600666", "resource": "MIM", "url": "https://www.omim.org/entry/600666", "name": "Polycystic kidney disease 3 with or without polycystic liver disease", "description": "Polycystic kidney disease 3 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010916", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010916" }, { "id": "600666", "database": "MIM", "url": "https://www.omim.org/entry/600666" }, { "id": "0110860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110860" } ] } ] }, { "evidence": [ { "id": "rs1409893063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409893063" }, { "id": "rs1409893063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1409893063#frequency_tab" }, { "id": "rs1409893063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409893063" } ], "glycoeffect": [], "start_pos": 2132, "end_pos": 2132, "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108773", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1409893063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409893063" }, { "id": "rs1409893063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1409893063#frequency_tab" }, { "id": "rs1409893063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1409893063" } ], "glycoeffect": [], "start_pos": 2132, "end_pos": 2132, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108773", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1269832767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269832767" }, { "id": "rs1269832767", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1269832767#frequency_tab" }, { "id": "rs1269832767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269832767" } ], "glycoeffect": [], "start_pos": 2133, "end_pos": 2133, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108769", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1269832767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269832767" }, { "id": "rs1269832767", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1269832767#frequency_tab" }, { "id": "rs1269832767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269832767" } ], "glycoeffect": [], "start_pos": 2133, "end_pos": 2133, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108769", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454460" } ], "glycoeffect": [], "start_pos": 2133, "end_pos": 2133, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108769AAG", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2133", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "P98161", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98161" }, { "id": "rs748524266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748524266" }, { "id": "rs748524266", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748524266" }, { "id": "rs748524266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748524266#frequency_tab" }, { "id": "rs748524266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748524266" } ], "glycoeffect": [], "start_pos": 2134, "end_pos": 2134, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "16", "chr_pos": "2108767", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2134", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555454467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555454467" } ], "glycoeffect": [], "start_pos": 2134, "end_pos": 2134, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108770", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V2134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779342040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779342040" }, { "id": "rs779342040", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779342040" }, { "id": "rs779342040", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779342040#frequency_tab" }, { "id": "rs779342040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779342040" } ], "glycoeffect": [], "start_pos": 2135, "end_pos": 2135, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108764", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2135", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs368987928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368987928" }, { "id": "rs368987928", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368987928" }, { "id": "rs368987928", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368987928#frequency_tab" }, { "id": "rs368987928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368987928" } ], "glycoeffect": [], "start_pos": 2135, "end_pos": 2135, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108763", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2135", "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092425533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092425533" }, { "id": "rs2092425533", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092425533" } ], "glycoeffect": [], "start_pos": 2136, "end_pos": 2136, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108761", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2136", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080322", "recommended_name": { "id": "DOID:0080322", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." }, "synonyms": [ { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ] }, { "disease_id": "DOID:0110858", "recommended_name": { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "polycystic kidney disease 1", "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "Polycystic Kidney Disease, Adult, Type I", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "APKD1", "description": "" }, { "id": "DOID:0110858", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110858", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "APKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "polycystic kidney disease type 1", "description": "" }, { "id": "MONDO:0008263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008263", "name": "Potter type 3 polycystic kidney disease", "description": "" }, { "id": "MIM:173900", "resource": "MIM", "url": "https://www.omim.org/entry/173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease", "description": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" }, { "id": "0110858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110858" } ] } ] }, { "evidence": [ { "id": "rs780732047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780732047" }, { "id": "rs780732047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780732047" }, { "id": "rs780732047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780732047#frequency_tab" }, { "id": "rs780732047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780732047" }, { "id": "rs780732047", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780732047" } ], "glycoeffect": [], "start_pos": 2136, "end_pos": 2136, "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "16", "chr_pos": "2108760", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q2136", "keywords": [ "ebi", "somatic" ] } ] } }