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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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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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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"diaphyseal Aclasis", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type I", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the 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"Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs772821141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772821141" }, { "id": "rs772821141", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772821141" }, { "id": "rs772821141", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772821141#frequency_tab" }, { "id": "rs772821141", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772821141" }, { "id": "rs772821141", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs772821141" } ], "glycoeffect": [], "start_pos": 166, "end_pos": 166, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "44108209", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R166", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "diaphyseal Aclasis", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type I", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "This gene is involved in the 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Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs772821141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772821141" }, { "id": "rs772821141", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772821141" }, { "id": "rs772821141", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772821141#frequency_tab" }, { "id": "rs772821141", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772821141" } ], "glycoeffect": [], "start_pos": 166, "end_pos": 166, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108209", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q93063", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063" }, { "id": "rs1000640190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1000640190" }, { "id": "rs1000640190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1000640190#frequency_tab" }, { "id": "rs1000640190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1000640190" } ], "glycoeffect": [], "start_pos": 166, "end_pos": 166, "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycosyltransferase proteins.", "chr_id": "11", "chr_pos": "44108208", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R166", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0080638", "DOID:7757", "DOID:706", "DOID:0050743", "DOID:6536", "DOID:1039", "DOID:1036", "DOID:0081452", "DOID:4960", "DOID:5772", "DOID:5604", "DOID:8527" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs762533540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762533540" }, { "id": "rs762533540", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762533540" }, { "id": "rs762533540", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762533540#frequency_tab" }, { "id": "rs762533540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762533540" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "44108214", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K168", "disease": [ { "disease_id": "DOID:206", "recommended_name": { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses", "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth." }, "synonyms": [ { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple congenital exostosis", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Multiple exostosis syndromes", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "Osteochondromatosis syndrome", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 1", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 2", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "hereditary multiple exostoses 3", "description": "" }, { "id": "DOID:206", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:206", "name": "multiple ostechondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT1 exostoses, multiple", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple caused by mutation in EXT1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type 1", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "EXT", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "diaphyseal Aclasis", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "exostoses, multiple, type I", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple cartilaginous exostoses", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "multiple osteochondromas", "description": "" }, { "id": "MONDO:0007585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007585", "name": "osteochondromatosis", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "EXT2 exostoses, multiple", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses (Multiple) 2 Gene", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple caused by mutation in EXT2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type 2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "Ext2", "description": "" }, { "id": "MONDO:0007586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007586", "name": "exostoses, multiple, type II", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "EXT3", "description": "" }, { "id": "MONDO:0010846", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010846", "name": "exostoses, multiple, type III", "description": "" }, { "id": "MONDO:0010846", 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