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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0070483", "recommended_name": { "id": "DOID:0070483", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070483", "name": "Watson syndrome", "description": "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2." }, "synonyms": [ { "id": "MONDO:0008672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008672", "name": "Watson syndrome", "description": "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." }, { "id": "MONDO:0008672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008672", "name": "Watson syndrome", "description": "" }, { "id": "MONDO:0008672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008672", "name": "WTSN", "description": "" }, { "id": "MIM:193520", "resource": "MIM", "url": "https://www.omim.org/entry/193520", "name": "Watson syndrome", "description": "Watson syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070483" }, { "id": "0070483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070483" } ] }, { "disease_id": "DOID:0050458", "recommended_name": { "id": "DOID:0050458", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes." }, "synonyms": [ { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "chronic myelomonocytic leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "chronic myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "JCML", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "JMML", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myeloid leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelomonocytic leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "leukemia, juvenile myelomonocytic, somatic", "description": "" }, { "id": "MIM:607785", "resource": "MIM", "url": "https://www.omim.org/entry/607785", "name": "Leukemia, juvenile myelomonocytic", "description": "Leukemia, juvenile myelomonocytic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" }, { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "disease_id": "DOID:0070482", "recommended_name": { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "spinal neurofibromatosis", "description": "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots." }, "synonyms": [ { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "familial spinal neurofibromatosis", "description": "" }, { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "FNSF", "description": "" }, { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "SNF", "description": "" }, { "id": "MONDO:0008078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008078", "name": "neurofibromatosis, familial spinal", "description": "" }, { "id": "MONDO:0008078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008078", "name": "neurofibromatosis, familial spinal", "description": "" }, { "id": "MIM:162210", "resource": "MIM", "url": "https://www.omim.org/entry/162210", "name": "Familial spinal neurofibromatosis", "description": "Familial spinal neurofibromatosis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070482" }, { "id": "0070482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070482" } ] }, { "disease_id": "DOID:0111253", "recommended_name": { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "neurofibromatosis 1", "description": "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone." }, "synonyms": [ { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "NF1", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "Peripheral Neurofibromatosis", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "neurofibromatosis type I", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "von Recklinghausen Disease", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "Recklinghausen's neurofibromatosis", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis type 1", "description": "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "NF1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "Neurofibromatosis 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "Nf1-Microdeletion syndrome", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis type 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis type i", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis, type 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "nonmosaic NF1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "nonmosaic neurofibromatosis type 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "peripheral neurofibromatosis", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "Recklinghausen's disease", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis, type I", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "type 1 neurofibromatosis", "description": "" }, { "id": "MIM:162200", "resource": "MIM", "url": "https://www.omim.org/entry/162200", "name": "Neurofibromatosis 1", "description": "Neurofibromatosis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111253" } ] }, { "disease_id": "DOID:0111683", "recommended_name": { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "neurofibromatosis-Noonan syndrome", "description": "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2." }, "synonyms": [ { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "NFNS", "description": "" }, { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "Noonan neurofibromatosis syndrome", "description": "" }, { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "neurofibromatosis type 1-Noonan syndrome", "description": "" }, { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "neurofibromatosis with Noonan phenotype", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "neurofibromatosis-Noonan syndrome", "description": "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "NFNS", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "neurofibromatosis type 1-Noonan syndrome", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "neurofibromatosis-Noonan syndrome", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "Noonan neurofibromatosis syndrome", "description": "" }, { "id": "MIM:601321", "resource": "MIM", "url": "https://www.omim.org/entry/601321", "name": "Neurofibromatosis-Noonan syndrome", "description": "Neurofibromatosis-Noonan syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111683" }, { "id": "0111683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111683" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P21359", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21359" } ], "glycoeffect": [], "start_pos": 440, "end_pos": 440, "subjects_tested": "55594", "subjects_positive": "26", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 2 out of 6 filters: patient count (26/55594); num. of cancers (6).", "chr_id": "17", "chr_pos": "31206297", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R440", "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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P21359", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21359" } ], "glycoeffect": [], "start_pos": 1139, "end_pos": 1139, "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "17", "chr_pos": "31232800", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1139", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P21359", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21359" } ], "glycoeffect": [], "start_pos": 1143, "end_pos": 1143, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "31232812", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1143", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", 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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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"MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P21359", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21359" }, { "id": "rs199474764", "database": 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"https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:0070483", "recommended_name": { "id": "DOID:0070483", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070483", "name": "Watson syndrome", "description": "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2." }, "synonyms": [ { "id": "MONDO:0008672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008672", "name": "Watson syndrome", "description": "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." }, { "id": "MONDO:0008672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008672", "name": "Watson syndrome", "description": "" }, { "id": "MONDO:0008672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008672", "name": "WTSN", "description": "" }, { "id": "MIM:193520", "resource": "MIM", "url": "https://www.omim.org/entry/193520", "name": "Watson syndrome", "description": "Watson syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070483" }, { "id": "0070483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070483" } ] }, { "disease_id": "DOID:0050458", "recommended_name": { "id": "DOID:0050458", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes." }, "synonyms": [ { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "chronic myelomonocytic leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "chronic myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "JCML", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "JMML", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myeloid leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelomonocytic leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "leukemia, juvenile myelomonocytic, somatic", "description": "" }, { "id": "MIM:607785", "resource": "MIM", "url": "https://www.omim.org/entry/607785", "name": "Leukemia, juvenile myelomonocytic", "description": "Leukemia, juvenile myelomonocytic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" }, { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "disease_id": "DOID:0111253", "recommended_name": { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "neurofibromatosis 1", "description": "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone." }, "synonyms": [ { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "NF1", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "Peripheral Neurofibromatosis", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "neurofibromatosis type I", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "von Recklinghausen Disease", "description": "" }, { "id": "DOID:0111253", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111253", "name": "Recklinghausen's neurofibromatosis", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis type 1", "description": "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "NF1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "Neurofibromatosis 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "Nf1-Microdeletion syndrome", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis type 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis type i", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis, type 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "nonmosaic NF1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "nonmosaic neurofibromatosis type 1", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "peripheral neurofibromatosis", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "Recklinghausen's disease", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "neurofibromatosis, type I", "description": "" }, { "id": "MONDO:0018975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018975", "name": "type 1 neurofibromatosis", "description": "" }, { "id": "MIM:162200", "resource": "MIM", "url": "https://www.omim.org/entry/162200", "name": "Neurofibromatosis 1", "description": "Neurofibromatosis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111253" } ] }, { "disease_id": "DOID:0070482", "recommended_name": { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "spinal neurofibromatosis", "description": "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots." }, "synonyms": [ { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "familial spinal neurofibromatosis", "description": "" }, { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "FNSF", "description": "" }, { "id": "DOID:0070482", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070482", "name": "SNF", "description": "" }, { "id": "MONDO:0008078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008078", "name": "neurofibromatosis, familial spinal", "description": "" }, { "id": "MONDO:0008078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008078", "name": "neurofibromatosis, familial spinal", "description": "" }, { "id": "MIM:162210", "resource": "MIM", "url": "https://www.omim.org/entry/162210", "name": "Familial spinal neurofibromatosis", "description": "Familial spinal neurofibromatosis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070482" }, { "id": "0070482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070482" } ] }, { "disease_id": "DOID:0111683", "recommended_name": { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "neurofibromatosis-Noonan syndrome", "description": "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2." }, "synonyms": [ { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "NFNS", "description": "" }, { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "Noonan neurofibromatosis syndrome", "description": "" }, { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "neurofibromatosis type 1-Noonan syndrome", "description": "" }, { "id": "DOID:0111683", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111683", "name": "neurofibromatosis with Noonan phenotype", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "neurofibromatosis-Noonan syndrome", "description": "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "NFNS", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "neurofibromatosis type 1-Noonan syndrome", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "neurofibromatosis-Noonan syndrome", "description": "" }, { "id": "MONDO:0011035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011035", "name": "Noonan neurofibromatosis syndrome", "description": "" }, { "id": "MIM:601321", "resource": "MIM", "url": "https://www.omim.org/entry/601321", "name": "Neurofibromatosis-Noonan syndrome", "description": "Neurofibromatosis-Noonan syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111683" }, { "id": "0111683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111683" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P21359", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21359" }, { "id": "rs199474764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474764" }, { "id": "rs199474764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474764" }, { "id": "rs199474764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199474764#frequency_tab" }, { "id": "rs199474764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199474764" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1156, "end_pos": 1156, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAN->NAT).", "chr_id": "17", "chr_pos": "31232852", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N1156", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast 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