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}, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2752", "recommended_name": { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features." }, "synonyms": [ { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Generalized glycogenosis", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease, type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogenosis, type 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Lysosomal alpha-1,4-glucosidase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe's disease", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "acid maltase deficiency", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of glucoamylase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "deficiency of maltase", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "glycogen storage disease type II", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Glycogen storage disease 2", "description": "" }, { "id": "DOID:2752", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2752", "name": "Pompe disease", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease due to acid maltase deficiency, infantile onset", "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "GSD type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "Pompe disease, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "alpha-1,4-glucosidase acid deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogen storage disease type II, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis due to acid maltase deficiency, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type 2, infantile onset", "description": "" }, { "id": "MONDO:0017694", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017694", "name": "glycogenosis type II, infantile onset", "description": "" }, { "id": "MIM:232300", "resource": "MIM", "url": "https://www.omim.org/entry/232300", "name": "Pompe disease, infantile-onset", "description": "Pompe disease, infantile-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P10253", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253" }, { "id": "rs754449703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449703" }, { "id": "rs754449703", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754449703" }, { "id": "rs754449703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754449703#frequency_tab" }, { "id": "rs754449703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754449703" }, { "id": "rs754449703", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs754449703" } ], "glycoeffect": [], "start_pos": 357, "end_pos": 357, "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "80108403", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V357", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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