{ "uniprot_canonical_ac": "A0A0G2K475-1", "uniprot_ac": "A0A0G2K475", "uniprot_id": "A0A0G2K475_RAT", "mass": { "chemical_mass": 130367.0, "monoisotopic_mass": 130367.0 }, "refseq": {}, "gene_names": [ { "name": "Brip1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K475", "id": "A0A0G2K475" } ], "protein_names": [ { "name": "BRCA1 interacting protein C-terminal helicase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2K475" } ], "function": [], "disease": [ { "disease_id": "DOID:0111097", "recommended_name": { "id": "DOID:0111097", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111097", "name": "Fanconi anemia complementation group J", "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22." }, "synonyms": [ { "id": "DOID:0111097", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111097", "name": "FANCJ", "description": "" }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "Fanconi anemia complementation group J", "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "FANCJ", "description": "" }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "Fanconi Anemia, complementation group type J", "description": "" }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "Fanconi anaemia complementation group type J", "description": "" }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "Fanconi anemia complementation group J", "description": "" }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "Fanconi anemia complementation group type J", "description": "" }, { "id": "MONDO:0012187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012187", "name": "Fanconi anemia, complementation group J", "description": "" }, { "id": "MIM:609054", "resource": "MIM", "url": "https://www.omim.org/entry/609054", "name": "Fanconi anemia complementation group J", "description": "Fanconi anemia complementation group J" } ], "evidence": [ { "id": "0111097", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111097" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:13636", "recommended_name": { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair." }, "synonyms": [ { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi anaemia", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi pancytopenia", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi panmyelopathy", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi's anaemia", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi's anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia complementation group A", "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "FANCA", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "FANCA Fanconi anaemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "FANCA Fanconi anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anemia, complementation group type a", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anaemia caused by mutation in FANCA", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anaemia complementation group type A", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia caused by mutation in FANCA", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia complementation group A", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia complementation group type A", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Estren-Dameshek variant of Fanconi Anaemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Estren-Dameshek variant of Fanconi Anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Estren-Dameshek variant of Fanconi pancytopenia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anaemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anemia, Estren-Dameshek variant", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia, complementation group A", "description": "" }, { "id": "MIM:227650", "resource": "MIM", "url": "https://www.omim.org/entry/227650", "name": "Fanconi anemia, complementation group A", "description": "Fanconi anemia, complementation group A" } ], "evidence": [ { "id": "13636", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ] }, { "disease_id": "DOID:14250", "recommended_name": { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "Down syndrome", "description": "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability." }, "synonyms": [ { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "Complete trisomy 21 syndrome", "description": "" }, { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "Down's syndrome", "description": "" }, { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "Down's syndrome - trisomy 21", "description": "" }, { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "Downs syndrome", "description": "" }, { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "G Trisomy", "description": "" }, { "id": "DOID:14250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14250", "name": "trisomy 21 syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down syndrome", "description": "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down syndrome, Isolated cases", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down's syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down's syndrome - trisomy 21", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Downs syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "G trisomy", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "leukemia, megakaryoblastic, with or without Down syndrome, somatic", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "trisomy 21 (Down syndrome)", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "complete trisomy 21 syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "trisomy 21", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "trisomy 21 syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down syndrome chromosome region", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "Down syndrome critical region", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "leukemia, megakaryoblastic, of Down syndrome", "description": "" }, { "id": "MONDO:0008608", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008608", "name": "transient myeloproliferative disorder of Down syndrome", "description": "" } ], "evidence": [ { "id": "14250", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ] }, { "disease_id": "DOID:1588", "recommended_name": { "id": "DOID:1588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood." }, "synonyms": [ { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia 4", "description": "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "CYCS thrombocytopenia", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia 4", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia caused by mutation in CYCS", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia type 4", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "THC4", "description": "" }, { "id": "MONDO:0012775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012775", "name": "thrombocytopenia, autosomal dominant, 4", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "description": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anemia", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive", "description": "" }, { "id": "MONDO:0010308", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010308", "name": "XLTDA", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia 2", "description": "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia 2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia type 2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "THC2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia autosomal dominant 2", "description": "" }, { "id": "MONDO:0008555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008555", "name": "thrombocytopenia, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "thrombocytopenia 3", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "THC3", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "thrombocytopenia 3", "description": "" }, { "id": "MONDO:0010120", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010120", "name": "thrombocytopenia, autosomal recessive, 3", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "X-linked thrombocytopenia with normal platelets", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia type 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, intermittent, X-linked recessive", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "THC", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "THC1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "X-linked thrombocytopenia", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "XLT", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, 1", "description": "" }, { "id": "MONDO:0010743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010743", "name": "thrombocytopenia, X-linked, intermittent", "description": "" }, { "id": "MIM:612004", "resource": "MIM", "url": "https://www.omim.org/entry/612004", "name": "Thrombocytopenia 4", "description": "Thrombocytopenia 4" }, { "id": "MIM:300367", "resource": "MIM", "url": "https://www.omim.org/entry/300367", "name": "X-linked dyserythropoietic anemia and thrombocytopenia", "description": "X-linked dyserythropoietic anemia and thrombocytopenia" }, { "id": "MIM:188000", "resource": "MIM", "url": "https://www.omim.org/entry/188000", "name": "Thrombocytopenia 2", "description": "Thrombocytopenia 2" }, { "id": "MIM:273900", "resource": "MIM", "url": "https://www.omim.org/entry/273900", "name": "Thrombocytopenia 3", "description": "Thrombocytopenia 3" }, { "id": "MIM:313900", "resource": "MIM", "url": "https://www.omim.org/entry/313900", "name": "Thrombocytopenia 1", "description": "Thrombocytopenia 1" } ], "evidence": [ { "id": "1588", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://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": 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} ], "evidence": [ { "id": "3744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://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. 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"MSSVLSEYTIGGVKIHFPCRAYPAQLAMMNSIVRGLNSSQHCLLESPTGSGKSLALLCSALAWQQSLTGKPVDEGLNKKPEAPSSCSCSCHSKNFTYSDTNLDTSPHFSSPSKPSSERNAVSSPCRDSPERNSLAAKLSAKKHASIHEDDDFQVEKKRIRPLETTQQIRKRHCLEKDVHHLDARLASEKRVKPESPIRKTSSSFQNPDGLCSRCCCSANQGINKESANTVKKDNGDQSKRPKIYFGTRTHKQIAQITRELRKTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCMELLDGKHGKSCYFYHGVHRISNQQTLQFLHGISKAWDIEELVSLGRKLKACPYYTARELIDSADIIFCPYNYLLDSQIRESMDIKLKEQVVILDEAHNIEECARETASYSVTEVQLRFARDELDSLINSNIRKKSHEPLRDVCYNLINWLETNSKNLVERDYESSCKIWSGNEMLLNLHRMGITAASFPVLQKHLSAVLQKEEKVTSTHGKEEAIQIPIISASTQIMLKGLFMVLDYLFRKNSRFADDYKVAIQQTYSWTNQIAIFDKNALLPVPKNKKHSRQKIGVNVLNFWCLNPAVAFSDINDKVRTIVLTSGTLSPLKSFSSELGVTFNIQLEANHVISNSQVWVGTVGSGPKGRNLCATFQHTETFEFQDEVGMLLLSVCQTVSQGILCFLPSYKLLEKLRERWIFTGLWHSLESVKTVIAEPQGGEKTDFDELLQVYYDAIKFKGEKDGALLIAVCRGKVSEGLDFSDDNARAVITIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRALNQALGRCIRHKNDWGALILVDDRFNNNPDRYISGLSKWVRQQIQHHSTFASALESLTEFSKRHQKVTNRSKKEEKCTKENGSTLDVACLEGSTLTSVSEASHQTPENSLEEEAKVCVQEQRYPQMAAENPSGPSHGVSRRKESDPGLREKSVQTMKTEKSEISRSSSPTFGKQTEPVNWPIFNSLKRHFNSKVKNRTPVLKSSKNHASASSAFNKTALPLTGKCVSSSAPANTPLAPCPQSEVIIPSVKADTTPAKTHCKQNEKDPSPDAELSPVTEEAKGSSSNPAVGTEVDDDSVCFTPELFDPVSTDEENSELVETDRSSNNSDCLSAEELFETVTGFGQK", 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