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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs769084817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769084817#frequency_tab" }, { "id": "rs769084817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769084817" }, { "id": "rs769084817", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs769084817" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098077", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P41", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID: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" ] }, { "evidence": [ { "id": "rs769084817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769084817" }, { "id": "rs769084817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769084817#frequency_tab" }, { "id": "rs769084817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769084817" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098077", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780515011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780515011" }, { "id": "rs1780515011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780515011" }, { "id": "rs1780515011", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780515011" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098078", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P41", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1203694843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203694843" }, { "id": "rs1203694843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203694843" } ], "glycoeffect": [], "start_pos": 4201, "end_pos": 4201, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1481768364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481768364" }, { "id": "rs1481768364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1481768364" } ], "glycoeffect": [], "start_pos": 4202, "end_pos": 4202, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041800", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1246195921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246195921" }, { "id": "rs1246195921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246195921" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4204, "end_pos": 4204, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041793", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y4204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1282148442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282148442" }, { "id": "rs1282148442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282148442" } ], "glycoeffect": [], "start_pos": 4205, "end_pos": 4205, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32041791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G4205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs200226242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" }, { "id": "rs200226242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200226242#frequency_tab" }, { "id": "rs200226242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200226242" }, { "id": "rs200226242", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096594", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V420", "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", "ebi" ] }, { "evidence": [ { "id": "rs200226242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" }, { "id": "rs200226242", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200226242" }, { "id": "rs200226242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200226242#frequency_tab" }, { "id": "rs200226242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200226242" }, { "id": "rs200226242", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200226242" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "sequence_org": "V", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096594", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs780536658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780536658#frequency_tab" }, { "id": "rs780536658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780536658" }, { "id": "rs780536658", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780536658" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096595", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs780536658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780536658" }, { "id": "rs780536658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780536658#frequency_tab" }, { "id": "rs780536658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780536658" }, { "id": "rs780536658", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780536658" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096595", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V420", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1310319680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310319680" }, { "id": "rs1310319680", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1310319680#frequency_tab" }, { "id": "rs1310319680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310319680" } ], "glycoeffect": [], "start_pos": 4210, "end_pos": 4210, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. 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"https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", 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"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). 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protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32096220", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "C545", "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 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1299930307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299930307" }, { "id": "rs1299930307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299930307" } ], "glycoeffect": [], "start_pos": 545, "end_pos": 545, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096219", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868703142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868703142" }, { "id": "rs868703142", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868703142" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866032782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866032782" }, { "id": "rs866032782", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866032782" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096217", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542518534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542518534" }, { "id": "rs542518534", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542518534" } ], "glycoeffect": [], "start_pos": 547, "end_pos": 547, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096214", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363037647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363037647" }, { "id": "rs1363037647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363037647" } ], "glycoeffect": [], "start_pos": 547, "end_pos": 547, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096213", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A547", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" }, { "id": "rs957352855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957352855" }, { "id": "rs957352855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957352855" } ], "glycoeffect": [], "start_pos": 548, "end_pos": 548, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", 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"MIM:614674", "resource": "MIM", "url": "https://www.omim.org/entry/614674", "name": "Periodic fever, menstrual cycle-dependent", "description": "Periodic fever, menstrual cycle-dependent" } ], "unlinked_id_list": [], "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1373074796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373074796" }, { "id": "rs1373074796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373074796" } ], "glycoeffect": [], "start_pos": 588, "end_pos": 588, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32096091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R588", "disease": [ { "disease_id": 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"https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", 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629, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32095968", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G629", "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", 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"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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P22105", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22105" } ], "glycoeffect": [], "start_pos": 62, "end_pos": 62, "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, tenascin xb (r. steet)).", "chr_id": "6", "chr_pos": "32098015", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H62", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2066017103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066017103" }, { "id": "rs2066017103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2066017103#frequency_tab" } ], "glycoeffect": [], "start_pos": 62, "end_pos": 62, "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32098015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H62", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748840851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748840851" }, { "id": "rs748840851", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748840851" }, { "id": "rs748840851", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748840851#frequency_tab" }, { "id": "rs748840851", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748840851" } ], "glycoeffect": [], "start_pos": 630, "end_pos": 630, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095965", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1303066307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303066307" }, { "id": "rs1303066307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303066307" } ], "glycoeffect": [], "start_pos": 630, "end_pos": 630, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095964", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780315559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780315559" } ], "glycoeffect": [], "start_pos": 632, "end_pos": 632, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095959", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780315559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780315559" }, { "id": "rs1780315559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780315559#frequency_tab" } ], "glycoeffect": [], "start_pos": 632, "end_pos": 632, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095959", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E632", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287689" }, { "id": "rs2127287689", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287689" } ], "glycoeffect": [], "start_pos": 633, "end_pos": 633, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095954", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E633", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554334243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554334243" }, { "id": "rs1554334243", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554334243" } ], "glycoeffect": [], "start_pos": 633, "end_pos": 633, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095956", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E633", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779535569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779535569" }, { "id": "rs779535569", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779535569" }, { "id": "rs779535569", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779535569#frequency_tab" }, { "id": "rs779535569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779535569" } ], "glycoeffect": [], "start_pos": 634, "end_pos": 634, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G634", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780315184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780315184" }, { "id": "rs1780315184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780315184#frequency_tab" } ], "glycoeffect": [], "start_pos": 634, "end_pos": 634, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095953", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": 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"description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1244100394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244100394" }, { "id": "rs1244100394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244100394#frequency_tab" }, { "id": "rs1244100394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244100394" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095920", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780310942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780310942" }, { "id": "rs1780310942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780310942#frequency_tab" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095919", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780310942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780310942" }, { "id": "rs1780310942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780310942#frequency_tab" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244100394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244100394" }, { "id": "rs1244100394", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244100394#frequency_tab" }, { "id": "rs1244100394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1244100394" } ], "glycoeffect": [], "start_pos": 645, "end_pos": 645, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095920", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1348155802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1348155802" }, { "id": "rs1348155802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1348155802" } ], "glycoeffect": [], "start_pos": 647, "end_pos": 647, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095913", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C647", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2127287359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127287359" }, { "id": "rs2127287359", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127287359" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095910", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763231833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763231833#frequency_tab" }, { "id": "rs763231833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763231833" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095911", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763231833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763231833" }, { "id": "rs763231833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763231833#frequency_tab" }, { "id": "rs763231833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763231833" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A648", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780310062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780310062" }, { "id": "rs1780310062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780310062#frequency_tab" }, { "id": "rs1780310062", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1780310062" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 649, "end_pos": 649, "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "NC_000006.12", "chr_pos": "32095908", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "1e-06", "site_lbl": "T649", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs752877508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752877508" }, { "id": "rs752877508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752877508" }, { "id": "rs752877508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752877508" } ], "glycoeffect": [], "start_pos": 649, "end_pos": 649, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095907", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T649", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773316282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773316282#frequency_tab" }, { "id": "rs773316282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773316282" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095905", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773316282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773316282" }, { "id": "rs773316282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773316282#frequency_tab" }, { "id": "rs773316282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773316282" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095905", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs17201602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17201602" }, { "id": "rs17201602", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17201602" }, { "id": "rs17201602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs17201602#frequency_tab" }, { "id": "rs17201602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs17201602" }, { "id": "rs17201602", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs17201602" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095904", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R650", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1347415116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347415116" }, { "id": "rs1347415116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347415116" } ], "glycoeffect": [], "start_pos": 651, "end_pos": 651, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095900", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200369087", "database": "dbSNP", "url": 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"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 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Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs759713941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759713941#frequency_tab" }, { "id": "rs759713941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759713941" }, { "id": "rs759713941", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs759713941" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 673, "end_pos": 673, "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095835", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y673", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs759713941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759713941" }, { "id": "rs759713941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759713941#frequency_tab" }, { "id": "rs759713941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759713941" } ], "glycoeffect": [], "start_pos": 673, "end_pos": 673, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095835", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y673", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1339027762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339027762" }, { "id": "rs1339027762", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339027762" } ], "glycoeffect": [], "start_pos": 674, "end_pos": 674, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095832", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G674", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780301731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780301731" }, { "id": "rs1780301731", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780301731" } ], "glycoeffect": [], "start_pos": 675, "end_pos": 675, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095829", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767398104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767398104#frequency_tab" }, { "id": "rs767398104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767398104" } ], "glycoeffect": [], "start_pos": 675, "end_pos": 675, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095830", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767398104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767398104" }, { "id": "rs767398104", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767398104#frequency_tab" }, { "id": "rs767398104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767398104" } ], "glycoeffect": [], "start_pos": 675, "end_pos": 675, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095830", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs973661311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973661311" }, { "id": "rs973661311", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs973661311#frequency_tab" }, { "id": "rs973661311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs973661311" } ], "glycoeffect": [], "start_pos": 676, "end_pos": 676, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E676", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141190850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141190850" }, { "id": "rs141190850", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141190850" }, { "id": "rs141190850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141190850" }, { "id": "rs141190850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141190850#frequency_tab" }, { "id": "rs141190850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141190850" } ], "glycoeffect": [], "start_pos": 677, "end_pos": 677, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, tenascin xb (r. steet).", "chr_id": "6", "chr_pos": "32095823", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000981162", "site_lbl": "D677", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080731", "recommended_name": { "id": "DOID:0080731", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080731", "name": "Ehlers-Danlos syndrome classic-like 1", "description": "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDS due to TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "EDSCLL", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "TNX deficiency", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "clEDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like EDS", "description": "" }, { "id": "MONDO:0011670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:606408", "resource": "MIM", "url": "https://www.omim.org/entry/606408", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "Ehlers-Danlos syndrome, classic-like, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "606408", "database": "MIM", "url": "https://www.omim.org/entry/606408" }, { "id": "0080731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080731" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": 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cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": 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