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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ] }, { "disease_id": "DOID:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." }, "synonyms": [ { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "HNSCC", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "SCCHN", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "craniocervical region squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck, somatic", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck", "description": "" }, { "id": "MIM:275355", "resource": "MIM", "url": "https://www.omim.org/entry/275355", "name": "Squamous cell carcinoma of the head and neck", "description": "Squamous cell carcinoma of the head and neck" } ] }, { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by 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"description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and 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"name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": 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"Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 245, "end_pos": 245, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (12); DB annot. (1). In dbSNP: rs28934575.", "chr_id": "17", "chr_pos": "7674230", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G245", "disease": [ { "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. 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": "" }, { "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] }, { "disease_id": "DOID:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." }, "synonyms": [ { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "ANLL", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemias", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, reduced survival in, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, myelocytic, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute, M4/M4Eo subtype, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myelogenous", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to", "description": "" }, { "id": "MIM:601626", "resource": "MIM", "url": "https://www.omim.org/entry/601626", "name": "Leukemia, acute myelogenous", "description": "Leukemia, acute myelogenous" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ] }, { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." }, "synonyms": [ { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "SBLA syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni Familiar cancer Susceptibility syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] }, { "disease_id": "DOID:0111503", "recommended_name": { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] }, { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "brain medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellar medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CNS PNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma with extensive nodularity", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ] }, { "disease_id": "DOID:5409", "recommended_name": { "id": "DOID:5409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung carcinoma", "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma (morphologic abnormality)", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "poorly differentiated endocrine neoplasm", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "Small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell neuroendocrine carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell lung carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung, somatic", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small-cell cancer of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC1", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung", "description": "" } ] }, { "disease_id": "DOID:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." }, "synonyms": [ { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "HNSCC", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "SCCHN", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "craniocervical region squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck, somatic", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck", "description": "" }, { "id": "MIM:275355", "resource": "MIM", "url": "https://www.omim.org/entry/275355", "name": "Squamous cell carcinoma of the head and neck", "description": "Squamous cell carcinoma of the head and neck" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" }, { "id": "rs1057519986", 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Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, 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"http://disease-ontology.org/term/DOID:3012", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" 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and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] }, { "disease_id": "DOID:0111503", "recommended_name": { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "LFS1", 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"Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ] }, { "disease_id": "DOID:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." }, "synonyms": [ { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "HNSCC", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "SCCHN", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "craniocervical region squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck, somatic", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck", "description": "" }, { "id": "MIM:275355", "resource": "MIM", "url": "https://www.omim.org/entry/275355", "name": "Squamous cell carcinoma of the head and neck", "description": "Squamous cell carcinoma of the head and neck" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 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"description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [ "o-glyco-site-loss" 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian 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"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": 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"MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", 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Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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{ "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease 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In dbSNP: rs730881999.", "chr_id": "17", "chr_pos": "7675232", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S127", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 127, "end_pos": 127, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5).", "chr_id": "17", "chr_pos": "7675232", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S127", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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": "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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 132, "end_pos": 132, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5). In dbSNP: rs747342068.", "chr_id": "17", "chr_pos": "7675218", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K132", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease 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"name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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. 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": "" }, { "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, 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"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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 132, "end_pos": 132, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7).", "chr_id": "17", "chr_pos": "7675217", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K132", "disease": [ { "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. 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": "" }, { "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", 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cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "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": "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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs28934873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934873" }, { "id": "rs28934873", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs28934873" }, { "id": "rs28934873", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934873" }, { "id": "10477429", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10477429" }, { "id": "16078640", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16078640" }, { "id": "16596195", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16596195" }, { "id": "1933902", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1933902" }, { "id": "22037554", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22037554" }, { "id": "24292195", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24292195" }, { "id": "2531845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2531845" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 133, "end_pos": 133, "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKM->NKT).", "chr_id": "17", "chr_pos": "7675214", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M133", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." }, "synonyms": [ { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "SBLA syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni Familiar cancer Susceptibility syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": 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"DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "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": "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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 135, "end_pos": 135, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "17", "chr_pos": "7675209", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "C135", "disease": [ { "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": "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", 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"url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 135, "end_pos": 135, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "7675207", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "C135", "disease": [ { "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": "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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 135, "end_pos": 135, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (8). In dbSNP: rs587781991.", "chr_id": "17", "chr_pos": "7675208", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C135", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "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": "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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "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. 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": "" }, { "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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: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": "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 136, "end_pos": 136, "subjects_tested": "0", 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 141, "end_pos": 141, "subjects_tested": "0", "subjects_positive": "0", "frequency": 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"publication": [ { "title": "Constitutive activation of Stat3 signaling confers resistance to apoptosis in human U266 myeloma cells.", "journal": "Immunity", "date": "1999", "authors": "Catlett-Falcone R, Landowski TH, Oshiro MM, Turkson J, Levitzki A, Savino R, Ciliberto G, Moscinski L, Fernandez-Luna JL, Nunez G, Dalton WS, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10023775", "url": "https://glygen.org/publication/PubMed/10023775" } ] }, { "title": "p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Karlseder J, Broccoli D, Dai Y, Hardy S, de Lange T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559586" } ], "reference": [ { "type": "PubMed", "id": "10037601", "url": "https://glygen.org/publication/PubMed/10037601" } ] }, { "title": "p53 mutants without a functional tetramerisation domain are not oncogenic.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Chene P, Bechter E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9723905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9723905" } ], "reference": [ { "type": "PubMed", "id": "10064694", "url": "https://glygen.org/publication/PubMed/10064694" } ] }, { "title": "Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations.", "journal": "Journal of the National Cancer Institute", "date": "1999", "authors": "Phillips KA, Nichol K, Ozcelik H, Knight J, Done SJ, Goodwin PJ, Andrulis IL", "evidence": [ { "database": "dbSNP", "id": "rs1057519986", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519986" } ], "reference": [ { "type": "PubMed", "id": "10070948", "url": "https://glygen.org/publication/PubMed/10070948" } ] }, { "title": "Double-stranded-RNA-activated protein kinase PKR enhances transcriptional activation by tumor suppressor p53.", "journal": "Molecular and cellular biology", "date": "1999-04", "authors": "Cuddihy A R, Li S, Tam N W, Wong A H, Taya Y, Abraham N, Bell J C, Koromilas A E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "10082513", "url": "https://glygen.org/publication/PubMed/10082513" } ] }, { "title": "Requirement of ATM in phosphorylation of the human p53 protein at serine 15 following DNA double-strand breaks.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Nakagawa K, Taya Y, Tamai K, Yamaizumi M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "10082548", "url": "https://glygen.org/publication/PubMed/10082548" } ] }, { "title": "Genetic changes in the spectrum of neuroendocrine lung tumors.", "journal": "Cancer", "date": "1999", "authors": "Onuki N, Wistuba II, Travis WD, Virmani AK, Yashima K, Brambilla E, Hasleton P, Gazdar AF", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "10091733", "url": "https://glygen.org/publication/PubMed/10091733" } ] }, { "title": "Sequencing analysis of RNA and DNA of exons 1 through 11 shows p53 gene alterations to be present in almost 100% of head and neck squamous cell cancers.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "1999", "authors": "Kropveld A, Rozemuller EH, Leppers FG, Scheidel KC, de Weger RA, Koole R, Hordijk GJ, Slootweg PJ, Tilanus MG", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "10092071", "url": "https://glygen.org/publication/PubMed/10092071" } ] }, { "title": "Beta-catenin regulates expression of cyclin D1 in colon carcinoma cells.", "journal": "Nature", "date": "1999", "authors": "Tetsu O, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853884", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853884" } ], "reference": [ { "type": "PubMed", "id": "10201372", "url": "https://glygen.org/publication/PubMed/10201372" } ] }, { "title": "DNA damage-inducible phosphorylation of p53 at N-terminal sites including a novel site, Ser20, requires tetramerization.", "journal": "The EMBO journal", "date": "1999", "authors": "Shieh SY, Taya Y, Prives C", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "10202145", "url": "https://glygen.org/publication/PubMed/10202145" } ] }, { "title": "DNA damage induced p53 stabilization: no indication for an involvement of p53 phosphorylation.", "journal": "Oncogene", "date": "1999", "authors": "Blattner C, Tobiasch E, Litfen M, Rahmsdorf HJ, Herrlich P", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "10208433", "url": "https://glygen.org/publication/PubMed/10208433" } ] }, { "title": "A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation.", "journal": "Blood", "date": "1999", "authors": "Lamant L, Dastugue N, Pulford K, Delsol G, Mariame B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10216106", "url": 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double-stranded RNA activated protein kinase PKR physically associates with the tumor suppressor p53 protein and phosphorylates human p53 on serine 392 in vitro.", "journal": "Oncogene", "date": "1999", "authors": "Cuddihy AR, Wong AH, Tam NW, Li S, Koromilas AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" }, { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "10348343", "url": "https://glygen.org/publication/PubMed/10348343" } ] }, { "title": "p300/cAMP-responsive element-binding protein interactions with ets-1 and ets-2 in the transcriptional activation of the human stromelysin promoter.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Jayaraman G, Srinivas R, Duggan C, Ferreira E, Swaminathan S, Somasundaram K, Williams J, Hauser C, Kurkinen M, Dhar R, Weitzman 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"Molecular immunology", "date": "1999", "authors": "Warren WD, Roberts KL, Linehan LA, Berton MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10369418", "url": "https://glygen.org/publication/PubMed/10369418" } ] }, { "title": "The zinc finger protein A20 inhibits TNF-induced NF-kappaB-dependent gene expression by interfering with an RIP- or TRAF2-mediated transactivation signal and directly binds to a novel NF-kappaB-inhibiting protein ABIN.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Heyninck K, De Valck D, Vanden Berghe W, Van Criekinge W, Contreras R, Fiers W, Haegeman G, Beyaert R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689896" } ], "reference": [ { "type": "PubMed", "id": "10385526", "url": "https://glygen.org/publication/PubMed/10385526" } ] 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following DNA damage in DNA-dependent protein kinase catalytic subunit-deficient cells.", "journal": "Cancer research", "date": "1999", "authors": "Araki R, Fukumura R, Fujimori A, Taya Y, Shiloh Y, Kurimasa A, Burma S, Li GC, Chen DJ, Sato K, Hoki Y, Tatsumi K, Abe M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "10446957", "url": "https://glygen.org/publication/PubMed/10446957" } ] }, { "title": "TP53 mutation and haplotype analysis of two large African American families.", "journal": "Human mutation", "date": "1999", "authors": "Hung J, Mims B, Lozano G, Strong L, Harvey C, Chen TT, Stastny V, Tomlinson G", "evidence": [ { "database": "dbSNP", "id": "rs28934873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934873" } ], "reference": [ { "type": "PubMed", "id": "10477429", "url": "https://glygen.org/publication/PubMed/10477429" } ] }, { "title": "Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.", "journal": "Cancer genetics and cytogenetics", "date": "1999", "authors": "Guran S, Tunca Y, Imirzalioglu N", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "10484981", "url": "https://glygen.org/publication/PubMed/10484981" } ] }, { "title": "Inhibition of ATM and ATR kinase activities by the radiosensitizing agent, caffeine.", "journal": "Cancer research", "date": "1999", "authors": "Sarkaria JN, Busby EC, Tibbetts RS, Roos P, Taya Y, Karnitz LM, Abraham RT", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "10485486", "url": "https://glygen.org/publication/PubMed/10485486" } ] }, { "title": "Patterns of p53 gene mutations in head and neck cancer: full-length gene sequencing and results of primary radiotherapy.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "1999", "authors": "Saunders ME, MacKenzie R, Shipman R, Fransen E, Gilbert R, Jordan RC", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "10499619", "url": "https://glygen.org/publication/PubMed/10499619" } ] }, { "title": "Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Smith GC, Cary RB, Lakin ND, Hann BC, Teo SH, Chen DJ, Jackson SP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": 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A manganese-dependent, wortmannin-sensitive serine/threonine protein kinase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Chan DW, Son SC, Block W, Ye R, Khanna KK, Wold MS, Douglas P, Goodarzi AA, Pelley J, Taya Y, Lavin MF, Lees-Miller SP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "10713094", "url": "https://glygen.org/publication/PubMed/10713094" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "Mdm2 is a RING finger-dependent ubiquitin protein ligase for itself and p53.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Fang S, Jensen JP, Ludwig RL, Vousden KH, Weissman AM", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "10722742", "url": "https://glygen.org/publication/PubMed/10722742" } ] }, { "title": "Ionizing radiation activates the ATM kinase throughout the cell cycle.", "journal": "Oncogene", "date": "2000", "authors": "Pandita TK, Lieberman HB, Lim DS, Dhar S, Zheng W, Taya Y, Kastan MB", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "10723129", "url": "https://glygen.org/publication/PubMed/10723129" } ] }, { "title": "hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response.", "journal": "Nature", "date": "2000", "authors": "Lee JS, Collins KM, Brown AL, Lee CH, Chung JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10724175", "url": "https://glygen.org/publication/PubMed/10724175" } ] }, { "title": "PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family.", "journal": "Genes & development", "date": "2000", "authors": "Attardi LD, Reczek EE, Cosmas C, Demicco EG, McCurrach ME, Lowe SW, Jacks T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803205" } ], "reference": [ { "type": "PubMed", "id": "10733530", "url": "https://glygen.org/publication/PubMed/10733530" } ] }, { "title": "Damage-mediated phosphorylation of human p53 threonine 18 through a cascade mediated by a casein 1-like kinase. 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Asada M, Yamada T, Taya Y, Prudente S, Saviozzi S, Frati L, Pierotti MA, Chessa L", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "10864201", "url": "https://glygen.org/publication/PubMed/10864201" } ] }, { "title": "Role for ATM in DNA damage-induced phosphorylation of BRCA1.", "journal": "Cancer research", "date": "2000", "authors": "Gatei M, Scott SP, Filippovitch I, Soronika N, Lavin MF, Weber B, Khanna KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "10866324", "url": "https://glygen.org/publication/PubMed/10866324" } ] }, { "title": "The B56alpha regulatory subunit of protein phosphatase 2A is a target for regulation by double-stranded RNA-dependent protein kinase PKR.", "journal": "Molecular and cellular biology", "date": 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"title": "Direct evidence for the participation of gap junction-mediated intercellular communication in the transmission of damage signals from alpha -particle irradiated to nonirradiated cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Azzam EI, de Toledo SM, Little JB", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11149936", "url": "https://glygen.org/publication/PubMed/11149936" } ] }, { "title": "Hepatitis C virus envelope protein E2 does not inhibit PKR by simple competition with autophosphorylation sites in the RNA-binding domain.", "journal": "Journal of virology", "date": "2001", "authors": "Taylor DR, Tian B, Romano PR, Hinnebusch AG, Lai MM, Mathews MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": 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Zhang W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11172619", "url": "https://glygen.org/publication/PubMed/11172619" } ] }, { "title": "DNA damage-induced phosphorylation of p53 at serine 20 correlates with p21 and Mdm-2 induction in vivo.", "journal": "Oncogene", "date": "2000", "authors": "Jabbur JR, Huang P, Zhang W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11175334", "url": "https://glygen.org/publication/PubMed/11175334" } ] }, { "title": "Significance of p53 mutations in patients with chronic lymphocytic leukemia: a sequential study of 30 patients.", "journal": "Cancer", "date": "2001", "authors": "Barnabas N, Shurafa M, Van Dyke DL, Wolman SR, Clark D, Worsham MJ", "evidence": [ { "database": "dbSNP", "id": 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"journal": "Molecular and cellular biology", "date": "2001-03", "authors": "Peters G A, Hartmann R, Qin J, Sen G C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "11238927", "url": "https://glygen.org/publication/PubMed/11238927" } ] }, { "title": "A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1.", "journal": "Molecular cell", "date": "2001", "authors": "Keller DM, Zeng X, Wang Y, Zhang QH, Kapoor M, Shu H, Goodman R, Lozano G, Zhao Y, Lu H", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": 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"Resveratrol-induced activation of p53 and apoptosis is mediated by extracellular-signal-regulated protein kinases and p38 kinase.", "journal": "Cancer research", "date": "2001-02-15", "authors": "She Q B, Bode A M, Ma W Y, Chen N Y, Dong Z", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11245472", "url": "https://glygen.org/publication/PubMed/11245472" } ] }, { "title": "Inhibition of p53-dependent transcription by BOX-I phospho-peptide mimetics that bind to p300.", "journal": "EMBO reports", "date": "2001", "authors": "Dornan D, Hupp TR", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11258706", "url": "https://glygen.org/publication/PubMed/11258706" } ] }, { "title": "Direct transcriptional activation of human caspase-1 by tumor suppressor p53.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gupta S, Radha V, Furukawa Y, Swarup G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "11278253", "url": "https://glygen.org/publication/PubMed/11278253" } ] }, { "title": "Thrombin regulates vascular smooth muscle cell growth and heat shock proteins via the JAK-STAT pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Madamanchi NR, Li S, Patterson C, Runge MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11278437", "url": "https://glygen.org/publication/PubMed/11278437" } ] }, { "title": "Co-operative effect of c-Src tyrosine kinase and Stat3 in activation of hepatocyte growth factor expression in mammary carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hung W, Elliott B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11278729", "url": "https://glygen.org/publication/PubMed/11278729" } ] }, { "title": "Enhanced antiviral and antiproliferative properties of a STAT1 mutant unable to interact with the protein kinase PKR.", "journal": "The Journal of biological chemistry", "date": "2001-04-27", "authors": "Wong A H, Durbin J E, Li S, Dever T E, Decker T, Koromilas A E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "11278865", "url": "https://glygen.org/publication/PubMed/11278865" } ] }, { "title": "p53-dependent transcriptional regulation of the APC promoter in colon cancer cells treated with DNA alkylating agents.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Jaiswal AS, Narayan S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11279192", "url": "https://glygen.org/publication/PubMed/11279192" } ] }, { "title": "Role of phosphatidylinositol 3-kinase-Akt pathway in nucleophosmin/anaplastic lymphoma kinase-mediated lymphomagenesis.", "journal": "Cancer research", "date": "2001", "authors": "Slupianek A, Nieborowska-Skorska M, Hoser G, Morrione A, Majewski M, Xue L, Morris SW, Wasik MA, Skorski T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11280786", "url": "https://glygen.org/publication/PubMed/11280786" } ] }, { "title": "Jun NH2-terminal kinase phosphorylation of p53 on Thr-81 is important for p53 stabilization and transcriptional activities in response to stress.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Buschmann T, Potapova O, Bar-Shira A, Ivanov VN, Fuchs SY, Henderson S, Fried VA, Minamoto T, Alarcon-Vargas D, Pincus MR, Gaarde WA, Holbrook NJ, Shiloh Y, Ronai Z", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "11283254", "url": "https://glygen.org/publication/PubMed/11283254" } ] }, { "title": "COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system.", "journal": "The EMBO journal", "date": "2001", "authors": "Bech-Otschir D, Kraft R, Huang X, Henklein P, Kapelari B, Pollmann C, Dubiel W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", 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Tomer KB, Borchers CH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11300786", "url": "https://glygen.org/publication/PubMed/11300786" } ] }, { "title": "Cadmium induces phosphorylation of p53 at serine 15 in MCF-7 cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Matsuoka M, Igisu H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11302731", "url": "https://glygen.org/publication/PubMed/11302731" } ] }, { "title": "Unusual profile and high prevalence of p53 mutations in esophageal squamous cell carcinomas from northern Iran.", "journal": "Cancer research", "date": "2001-04-01", "authors": "Biramijamal F, Allameh A, Mirbod P, Groene H J, Koomagi R, Hollstein M", "evidence": [ { "database": "dbSNP", "id": "rs730882027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730882027" } ], "reference": [ { "type": "PubMed", "id": "11306496", "url": "https://glygen.org/publication/PubMed/11306496" } ] }, { "title": "Frequent inactivation of the TP53 gene in esophageal squamous cell carcinoma from a high-risk population in China.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2001-04", "authors": "Hu N, Huang J, Emmert-Buck M R, Tang Z Z, Roth M J, Wang C, Dawsey S M, Li G, Li W J, Wang Q H, Han X Y, Ding T, Giffen C, Goldstein A M, Taylor P R", "evidence": [ { "database": "dbSNP", "id": "rs730882027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730882027" } ], "reference": [ { "type": "PubMed", "id": "11309337", "url": "https://glygen.org/publication/PubMed/11309337" } ] }, { "title": "Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2001", "authors": "Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11310834", "url": "https://glygen.org/publication/PubMed/11310834" } ] }, { "title": "Ataxia-telangiectasia: chronic activation of damage-responsive functions is reduced by alpha-lipoic acid.", "journal": "Oncogene", "date": "2001", "authors": "Gatei M, Shkedy D, Khanna KK, Uziel T, Shiloh Y, Pandita TK, Lavin MF, Rotman G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11313957", "url": 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"Mechanisms of Cr(VI)-induced p53 activation: the role of phosphorylation, mdm2 and ERK.", "journal": "Carcinogenesis", "date": "2001", "authors": "Wang S, Shi X", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11323395", "url": "https://glygen.org/publication/PubMed/11323395" } ] }, { "title": "TP53 mutation is related to poor prognosis after radiotherapy, but not surgery, in squamous cell carcinoma of the head and neck.", "journal": "Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology", "date": "2001-05", "authors": "Alsner J, S\u00f8rensen S B, Overgaard J", "evidence": [ { "database": "dbSNP", "id": "rs587780072", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587780072" } ], "reference": [ { "type": "PubMed", "id": "11325447", "url": "https://glygen.org/publication/PubMed/11325447" } ] }, { "title": "Cisplatinum and taxol induce different patterns of p53 phosphorylation.", "journal": "Neoplasia (New York, N.Y.)", "date": "2001", "authors": "Damia G, Filiberti L, Vikhanskaya F, Carrassa L, Taya Y, D'incalci M, Broggini M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11326311", "url": "https://glygen.org/publication/PubMed/11326311" } ] }, { "title": "Binding of double-stranded RNA to protein kinase PKR is required for dimerization and promotes critical autophosphorylation events in the activation loop.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Zhang F, Romano PR, Nagamura-Inoue T, Tian B, Dever TE, Mathews MB, Ozato K, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587782329" } ], "reference": [ { "type": "PubMed", "id": "11353048", "url": "https://glygen.org/publication/PubMed/11353048" } ] }, { "title": "c-Jun and c-Fos cooperate with STAT3 in IL-6-induced transactivation of the IL-6 respone element (IRE).", "journal": "Cytokine", "date": "2001", "authors": "Schuringa JJ, Timmer H, Luttickhuizen D, Vellenga E, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11356008", "url": "https://glygen.org/publication/PubMed/11356008" } ] }, { "title": "Cyclin a-CDK phosphorylation regulates MDM2 protein interactions.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Zhang T, Prives C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "11359766", "url": "https://glygen.org/publication/PubMed/11359766" } ] }, { "title": "Genetic alterations associated with hepatocellular carcinomas define distinct pathways of hepatocarcinogenesis.", "journal": "Gastroenterology", "date": "2001", "authors": "Laurent-Puig P, Legoix P, Bluteau O, Belghiti J, Franco D, Binot F, Monges G, Thomas G, Bioulac-Sage P, Zucman-Rossi J", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "11375957", "url": "https://glygen.org/publication/PubMed/11375957" } ] }, { "title": "Tumor suppressor and anti-inflammatory actions of PPARgamma agonists are mediated via upregulation of PTEN.", "journal": "Current biology : CB", "date": "2001", "authors": "Patel L, Pass I, Coxon P, Downes CP, Smith SA, Macphee CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": 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"date": "2001", "authors": "Ivanov VN, Bhoumik A, Krasilnikov M, Raz R, Owen-Schaub LB, Levy D, Horvath CM, Ronai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11463377", "url": "https://glygen.org/publication/PubMed/11463377" } ] }, { "title": "PUMA, a novel proapoptotic gene, is induced by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Nakano K, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-139915", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139915" } ], "reference": [ { "type": "PubMed", "id": "11463392", "url": "https://glygen.org/publication/PubMed/11463392" } ] }, { "title": "Abbreviated cell cycle progression induced by the serine/threonine protein phosphatase inhibitor okadaic acid at concentrations that promote neoplastic transformation.", "journal": "Carcinogenesis", "date": "2001-08", "authors": 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"evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11706017", "url": "https://glygen.org/publication/PubMed/11706017" } ] }, { "title": "Differential effect of ik3-1/cables on p53- and p73-induced cell death.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Tsuji K, Mizumoto K, Yamochi T, Nishimoto I, Matsuoka M", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "11706030", "url": "https://glygen.org/publication/PubMed/11706030" } ] }, { "title": "Regulation of the accumulation and function of p53 by phosphorylation of two residues within the domain that binds to Mdm2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Bean LJ, Stark GR", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11707453", "url": "https://glygen.org/publication/PubMed/11707453" } ] }, { "title": "UV-radiation induces dose-dependent regulation of p53 response and modulates p53-HDM2 interaction in human fibroblasts.", "journal": "Oncogene", "date": "2001", "authors": "Latonen L, Taya Y, Laiho M", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "11709713", "url": "https://glygen.org/publication/PubMed/11709713" } ] }, { "title": "Inhibition of Chk1-dependent G2 DNA damage checkpoint radiosensitizes p53 mutant human cells.", "journal": "Oncogene", "date": "2001", "authors": "Koniaras K, Cuddihy AR, Christopoulos H, Hogg A, O'Connell MJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11709716", "url": "https://glygen.org/publication/PubMed/11709716" } ] }, { "title": "ATR is not required for p53 activation but synergizes with p53 in the replication checkpoint.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nghiem P, Park PK, Kim Ys YS, Desai BN, Schreiber SL", "evidence": [ { 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Schmitz ML", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11740489", "url": "https://glygen.org/publication/PubMed/11740489" } ] }, { "title": "Camptothecin and Zeocin can increase p53 levels during all cell cycle stages.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Houser S, Koshlatyi S, Lu T, Gopen T, Bargonetti J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11741290", "url": "https://glygen.org/publication/PubMed/11741290" } ] }, { "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11744692", "url": "https://glygen.org/publication/PubMed/11744692" } ] }, { "title": "Interaction of p53 and DNA-PK in response to nucleoside analogues: potential role as a sensor complex for DNA damage.", "journal": "Cancer research", "date": "2001", "authors": "Achanta G, Pelicano H, Feng L, Plunkett W, Huang P", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11751391", "url": "https://glygen.org/publication/PubMed/11751391" } ] }, { "title": "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange.", "journal": "Genes & development", "date": "2001", "authors": "Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11751636", "url": "https://glygen.org/publication/PubMed/11751636" } ] }, { "title": "Multilevel dysregulation of STAT3 activation in anaplastic lymphoma kinase-positive T/null-cell lymphoma.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Zhang Q, Raghunath PN, Xue L, Majewski M, Carpentieri DF, Odum N, Morris S, Skorski T, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11751994", "url": "https://glygen.org/publication/PubMed/11751994" } ] }, { "title": "A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.", "journal": "Nature structural biology", "date": "2002", "authors": "DiGiammarino EL, Lee AS, Cadwell C, Zhang W, Bothner B, Ribeiro RC, Zambetti G, Kriwacki RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9723905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9723905" }, { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "11753428", "url": "https://glygen.org/publication/PubMed/11753428" } ] }, { "title": "p53 mutation, EGFR gene amplification and loss of heterozygosity on chromosome 10, 17 p in human gliomas.", "journal": "Chinese medical journal", "date": "2000", "authors": "Jin W, Xu X, Yang T, Hua Z", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "11776043", "url": "https://glygen.org/publication/PubMed/11776043" } ] }, { "title": "Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46 and mediates apoptosis.", "journal": "Nature cell biology", "date": "2002", "authors": "D'Orazi G, Cecchinelli B, Bruno T, Manni I, Higashimoto Y, Saito S, Gostissa M, Coen S, Marchetti A, Del Sal G, Piaggio G, Fanciulli M, Appella E, Soddu S", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "11780126", "url": "https://glygen.org/publication/PubMed/11780126" } ] }, { "title": "The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling.", "journal": "Nature cell biology", "date": "2001", "authors": "Virolle T, Adamson ED, Baron V, Birle D, Mercola D, Mustelin T, de Belle I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11781575", "url": "https://glygen.org/publication/PubMed/11781575" } ] }, { "title": "Double-stranded RNA-dependent protein kinase, PKR, down-regulates CDC2/cyclin B1 and induces apoptosis in non-transformed but not in v-mos transformed cells.", "journal": "Oncogene", "date": "2001-12-06", "authors": "Dagon Y, Dovrat S, Vilchik S, Hacohen D, Shlomo G, Sredni B, Salzberg S, Nir U", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "11781817", "url": "https://glygen.org/publication/PubMed/11781817" } ] }, { "title": "An ERK2 docking site in the Pointed domain distinguishes a subset of ETS transcription factors.", "journal": "Genes & development", "date": "2002", "authors": "Seidel JJ, Graves BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559585", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559585" } ], "reference": [ { "type": "PubMed", "id": "11782450", "url": "https://glygen.org/publication/PubMed/11782450" } ] }, { "title": "A functional screen identifies hDRIL1 as an oncogene that rescues RAS-induced senescence.", "journal": "Nature cell biology", "date": "2002", "authors": "Peeper DS, Shvarts A, Brummelkamp T, Douma S, Koh EY, Daley GQ, Bernards R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804116", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804116" } ], "reference": [ { "type": "PubMed", "id": "11812999", "url": "https://glygen.org/publication/PubMed/11812999" } ] }, { "title": "The human BTG2/TIS21/PC3 gene: genomic structure, transcriptional regulation and evaluation as a candidate tumor suppressor gene.", "journal": "Gene", "date": "2002", "authors": "Duriez C, Falette N, Audoynaud C, Moyret-Lalle C, Bensaad K, Courtois S, Wang Q, Soussi T, Puisieux A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804115", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804115" } ], "reference": [ { "type": "PubMed", "id": "11814693", "url": "https://glygen.org/publication/PubMed/11814693" } ] }, { "title": "Anaplastic lymphoma kinase (ALK) activates Stat3 and protects hematopoietic cells from cell death.", "journal": "Oncogene", "date": "2002", "authors": "Zamo A, Chiarle R, Piva R, Howes J, Fan Y, Chilosi M, Levy DE, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11850821", "url": "https://glygen.org/publication/PubMed/11850821" } ] }, { "title": "Activation of ATM and phosphorylation of p53 by heat shock.", "journal": "Oncogene", "date": "2002", "authors": "Miyakoda M, Suzuki K, Kodama S, Watanabe M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11850826", "url": "https://glygen.org/publication/PubMed/11850826" } ] }, { "title": "Effects of hyperthermia on p53 protein expression and activity.", "journal": "Journal of cellular physiology", "date": "2002", "authors": "Guan J, Stavridi E, Leeper DB, Iliakis G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11857452", "url": "https://glygen.org/publication/PubMed/11857452" } ] }, { "title": "Apoptosis induced by adenovirus-mediated p53 gene transfer in human glioma correlates with site-specific phosphorylation.", "journal": "Cancer research", "date": "2002-02-15", "authors": "Shono Tadahisa, Tofilon Philip J, Schaefer Timothy S, Parikh Dipen, Liu Ta-Jen, Lang Frederick F", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11861384", "url": "https://glygen.org/publication/PubMed/11861384" } ] }, { "title": "Hypoxia links ATR and p53 through replication arrest.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Hammond EM, Denko NC, Dorie MJ, Abraham RT, Giaccia AJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11865061", "url": "https://glygen.org/publication/PubMed/11865061" } ] }, { "title": "Restoration of wild-type conformation and activity of a temperature-sensitive mutant of p53 (p53(V272M)) by the cytoprotective aminothiol WR1065 in the esophageal cancer cell line TE-1.", "journal": "Molecular carcinogenesis", "date": "2002", "authors": "North S, Pluquet O, Maurici D, El-Ghissassi F, Hainaut P", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "11870884", "url": "https://glygen.org/publication/PubMed/11870884" } ] }, { "title": "ATM mediates phosphorylation at multiple p53 sites, including Ser(46), in response to ionizing radiation.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Saito S, Goodarzi AA, Higashimoto Y, Noda Y, Lees-Miller SP, Appella E, Anderson CW", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "11875057", "url": "https://glygen.org/publication/PubMed/11875057" } ] }, { "title": "Increased K+ efflux and apoptosis induced by the potassium channel modulatory protein KChAP/PIAS3beta in prostate cancer cells.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wible BA, Wang L, Kuryshev YA, Basu A, Haldar S, Brown AM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11877452", "url": "https://glygen.org/publication/PubMed/11877452" } ] }, { "title": "Kinetic properties of p53 phosphorylation by the human vaccinia-related kinase 1.", "journal": "Archives of biochemistry and biophysics", "date": "2002", "authors": "Barcia R, Lopez-Borges S, Vega FM, Lazo PA", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "11883897", "url": "https://glygen.org/publication/PubMed/11883897" } ] }, { "title": "Transcriptional regulation of the human tumor suppressor p14(ARF) by E2F1, E2F2, E2F3, and Sp1-like factors.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Parisi T, Pollice A, Di Cristofano A, Calabro V, La Mantia G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559585", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559585" } ], "reference": [ { "type": "PubMed", "id": "11883935", "url": "https://glygen.org/publication/PubMed/11883935" } ] }, { "title": "SN2 DNA-alkylating agent-induced phosphorylation of p53 and activation of p21 gene expression.", "journal": "Mutation research", "date": "2002", "authors": "Jaiswal AS, Narayan S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11890931", "url": "https://glygen.org/publication/PubMed/11890931" } ] }, { "title": "Histone H2A variants H2AX and H2AZ.", "journal": "Current opinion in genetics & development", "date": "2002", "authors": "Redon C, Pilch D, Rogakou E, Sedelnikova O, Newrock K, Bonner W", 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microsatellite that mediates induction of PIG3 by p53.", "journal": "Nature genetics", "date": "2002", "authors": "Contente A, Dittmer A, Koch MC, Roth J, Dobbelstein M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803205" } ], "reference": [ { "type": "PubMed", "id": "11919562", "url": "https://glygen.org/publication/PubMed/11919562" } ] }, { "title": "TP53 genotype but not p53 immunohistochemical result predicts response to preoperative short-term radiotherapy in rectal cancer.", "journal": "Annals of surgery", "date": "2002", "authors": "Kandioler D, Zwrtek R, Ludwig C, Janschek E, Ploner M, Hofbauer F, Kuhrer I, Kappel S, Wrba F, Horvath M, Karner J, Renner K, Bergmann M, Karner-Hanusch J, Potter R, Jakesz R, Teleky B, Herbst F", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "11923604", "url": "https://glygen.org/publication/PubMed/11923604" } ] }, { "title": "Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization.", "journal": "Nature", "date": "2002", "authors": "Li M, Chen D, Shiloh A, Luo J, Nikolaev AY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "11923872", "url": "https://glygen.org/publication/PubMed/11923872" } ] }, { "title": "Identification and characterization of HIPK2 interacting with p73 and modulating functions of the p53 family in vivo.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Kim EJ, Park JS, Um SJ", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "11925430", "url": "https://glygen.org/publication/PubMed/11925430" } ] }, { "title": "Cellular responses to the DNA strand-scission enediyne C-1027 can be independent of ATM, ATR, and DNA-PK kinases.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Dziegielewski J, Beerman TA", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11927575", "url": "https://glygen.org/publication/PubMed/11927575" } ] }, { "title": "Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chen A, Kleiman FE, Manley JL, Ouchi T, Pan ZQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11927591", "url": "https://glygen.org/publication/PubMed/11927591" } ] }, { "title": "Prevalence and spectrum of p53 mutations associated with smoking in breast cancer.", "journal": "Cancer research", "date": "2002", "authors": "Conway K, Edmiston SN, Cui L, Drouin SS, Pang J, He M, Tse CK, Geradts J, Dressler L, Liu ET, Millikan R, Newman B", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "11929815", "url": "https://glygen.org/publication/PubMed/11929815" } ] }, { "title": "Genomic instability in mice lacking histone H2AX.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Celeste A, Petersen S, Romanienko PJ, Fernandez-Capetillo O, Chen HT, Sedelnikova OA, Reina-San-Martin B, Coppola V, Meffre E, Difilippantonio MJ, Redon C, Pilch DR, Olaru A, Eckhaus M, Camerini-Otero RD, Tessarollo L, Livak F, Manova K, Bonner WM, Nussenzweig MC, Nussenzweig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "11934988", "url": "https://glygen.org/publication/PubMed/11934988" } ] }, { "title": "Inactivation of the PKR protein kinase and stimulation of mRNA translation by the cellular co-chaperone P58(IPK) does not require J domain function.", "journal": "Biochemistry", "date": "2002-04-16", "authors": "Yan Wei, Gale Michael J, Tan Seng-Lai, Katze Michael G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "11939789", "url": "https://glygen.org/publication/PubMed/11939789" } ] }, { "title": "Diversity of genomic breakpoints in TFG-ALK translocations in anaplastic large cell lymphomas: identification of a new TFG-ALK(XL) chimeric gene with transforming activity.", "journal": "The American journal of pathology", "date": "2002", "authors": "Hernandez L, Bea S, Bellosillo B, Pinyol M, Falini B, Carbone A, Ott G, Rosenwald A, Fernandez A, Pulford K, Mason D, Morris SW, Santos E, Campo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11943732", "url": "https://glygen.org/publication/PubMed/11943732" } ] }, { "title": "Expression of p53 and its homologues in primary and recurrent squamous cell carcinomas of the head and neck.", "journal": "International journal of cancer", "date": "2002", "authors": "Weber A, Bellmann U, Bootz F, Wittekind C, Tannapfel A", "evidence": [ { "database": "dbSNP", "id": "rs587782329", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587782329" } ], "reference": [ { "type": "PubMed", "id": "11948487", "url": "https://glygen.org/publication/PubMed/11948487" } ] }, { "title": "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.", "journal": "Journal of cell science", "date": "2002", "authors": "Rojo M, Legros F, Chateau D, Lombes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "title": "p53 regulates cell survival by inhibiting PIK3CA in squamous cell carcinomas.", "journal": "Genes & development", "date": "2002", "authors": "Singh B, Reddy PG, Goberdhan A, Walsh C, Dao S, Ngai I, Chou TC, O-Charoenrat P, Levine AJ, Rao PH, Stoffel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11959846", "url": "https://glygen.org/publication/PubMed/11959846" } ] }, { "title": "Constitutive Stat3 activity up-regulates VEGF expression and tumor angiogenesis.", "journal": "Oncogene", "date": "2002", "authors": "Niu G, Wright KL, Huang M, Song L, Haura E, Turkson J, Zhang S, Wang T, Sinibaldi D, Coppola D, Heller R, Ellis LM, Karras J, Bromberg J, Pardoll D, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11960372", "url": "https://glygen.org/publication/PubMed/11960372" } ] }, { "title": "Glycerol restores heat-induced p53-dependent apoptosis of human glioblastoma cells bearing mutant p53.", "journal": "BMC biotechnology", "date": "2002", "authors": "Ohnishi T, Ohnishi K, Takahashi A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11965244", "url": "https://glygen.org/publication/PubMed/11965244" } ] }, { "title": "p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Tan T, Chu G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11971958", "url": "https://glygen.org/publication/PubMed/11971958" } ] }, { "title": "Accumulation of an inactive form of p53 protein in cells treated with TNF alpha.", "journal": "Cell death and differentiation", "date": "2002", "authors": "Drane P, Leblanc V, Miro-Mur F, Saffroy R, Debuire B, May E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "11973611", "url": "https://glygen.org/publication/PubMed/11973611" } ] }, { "title": "Carcinogen-specific mutation pattern in the p53 tumour suppressor gene in UV radiation-induced basal cell carcinoma.", "journal": "International archives of occupational and environmental health", "date": "2002", "authors": "Weihrauch M, Bader M, Lehnert G, Wittekind C, Tannapfel A, Wrbitzky R", "evidence": [ { "database": "dbSNP", "id": "rs587782329", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587782329" } ], "reference": [ { "type": "PubMed", "id": "11981662", "url": "https://glygen.org/publication/PubMed/11981662" } ] }, { "title": "Cyclin G recruits PP2A to dephosphorylate Mdm2.", "journal": "Molecular cell", "date": "2002", "authors": "Okamoto K, Li H, Jensen MR, Zhang T, Taya Y, Thorgeirsson SS, Prives C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "11983168", "url": "https://glygen.org/publication/PubMed/11983168" } ] }, { "title": "The C-terminal, third conserved motif of the protein activator PACT plays an essential role in the activation of double-stranded-RNA-dependent protein kinase (PKR).", "journal": "The Biochemical journal", "date": "2002-08-15", "authors": "Huang Xu, Hutchins Brian, Patel Rekha C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "11985496", "url": "https://glygen.org/publication/PubMed/11985496" } ] }, { "title": "AP-1 as a regulator of cell life and death.", "journal": "Nature cell biology", "date": "2002", "authors": "Shaulian E, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11988758", "url": 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Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12032298", "url": "https://glygen.org/publication/PubMed/12032298" } ] }, { "title": "Cdk5 phosphorylates p53 and regulates its activity.", "journal": "Journal of neurochemistry", "date": "2002", "authors": "Zhang J, Krishnamurthy PK, Johnson GV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "12064478", "url": "https://glygen.org/publication/PubMed/12064478" } ] }, { "title": "Low dose of wortmannin reduces radiosensitivity of human glioblastoma cells through the p53 pathway.", "journal": "Oncology reports", "date": "2002", "authors": "Okaichi K, Suzuki K, Morita N, Ikeda M, Takahashi H, Matsuda N, Watanabe M, Okumura Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12066222", "url": "https://glygen.org/publication/PubMed/12066222" } ] }, { "title": "UVB-mediated activation of p38 mitogen-activated protein kinase enhances resistance of normal human keratinocytes to apoptosis by stabilizing cytoplasmic p53.", "journal": "The Biochemical journal", "date": "2002", "authors": "Chouinard N, Valerie K, Rouabhia M, Huot J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12071847", "url": "https://glygen.org/publication/PubMed/12071847" } ] }, { "title": "Transcription factor AP-2 interacts with the SUMO-conjugating enzyme UBC9 and is sumolated in vivo.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Eloranta JJ, Hurst HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "12072434", "url": "https://glygen.org/publication/PubMed/12072434" } ] }, { "title": "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yang Q, Zhang R, Wang XW, Spillare EA, Linke SP, Subramanian D, Griffith JD, Li JL, Hickson ID, Shen JC, Loeb LA, Mazur SJ, Appella E, Brosh RM Jr, Karmakar P, Bohr VA, Harris CC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12080066", "url": "https://glygen.org/publication/PubMed/12080066" } ] }, { "title": "Frequent phosphorylation at serine 392 in overexpressed p53 protein due to missense mutation in carcinoma of the urinary tract.", "journal": "The Journal of pathology", "date": "2002", "authors": "Furihata M, Kurabayashl A, Matsumoto M, Sonobe H, Ohtsuki Y, Terao N, Kuwahara M, Shuin T", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12081208", "url": "https://glygen.org/publication/PubMed/12081208" } ] }, { "title": "The onset of p53-dependent DNA repair or apoptosis is determined by the level of accumulated damaged DNA.", "journal": "Carcinogenesis", "date": "2002", "authors": "Offer H, Erez N, Zurer I, Tang X, Milyavsky M, Goldfinger N, Rotter V", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12082025", "url": "https://glygen.org/publication/PubMed/12082025" } ] }, { "title": "Regulation of apoptosis by p53 in UV-irradiated human epidermis, psoriatic plaques and senescent keratinocytes.", "journal": "Oncogene", "date": "2002", "authors": "Qin JZ, Chaturvedi V, Denning MF, Bacon P, Panella J, Choubey D, Nickoloff BJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12082529", "url": "https://glygen.org/publication/PubMed/12082529" } ] }, { "title": "Investigations on a clinically and functionally unusual and novel germline p53 mutation.", "journal": "Br. J. Cancer", "date": "2002", "authors": "Rutherford J, Chu C E, Duddy P M, Charlton R S, Chumas P, Taylor G R, Lu X, Barnes D M, Camplejohn R S", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "12085209", "url": "https://glygen.org/publication/PubMed/12085209" } ] }, { "title": "Apoptotic threshold is lowered by p53 transactivation of caspase-6.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "MacLachlan TK, El-Deiry WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "12089322", "url": "https://glygen.org/publication/PubMed/12089322" } ] }, { "title": "p38 kinase regulates nitric oxide-induced apoptosis of articular chondrocytes by accumulating p53 via NFkappa B-dependent transcription and stabilization by serine 15 phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kim SJ, Hwang SG, Shin DY, Kang SS, Chun JS", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "12091386", "url": "https://glygen.org/publication/PubMed/12091386" } ] }, { "title": "Deconstructing PML-induced premature senescence.", "journal": "The EMBO journal", "date": "2002", "authors": "Bischof O, Kirsh O, Pearson M, Itahana K, Pelicci PG, Dejean A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12093737", "url": "https://glygen.org/publication/PubMed/12093737" } ] }, { "title": "Checking in on Cds1 (Chk2): A checkpoint kinase and tumor suppressor.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2002", "authors": "McGowan CH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12111733", "url": "https://glygen.org/publication/PubMed/12111733" } ] }, { "title": "Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.", "journal": "Genes, chromosomes & cancer", "date": "2002", "authors": "Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12112524", "url": "https://glygen.org/publication/PubMed/12112524" } ] }, { "title": "Prevalence of microsatellite instability, inactivation of mismatch repair genes, p53 mutation, and human papillomavirus infection in Korean oral cancer patients.", "journal": "International journal of oncology", "date": "2002", "authors": "Shin KH, Park KH, Hong HJ, Kim JM, Oh JE, Choung PH, Min BM", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "12118324", "url": "https://glygen.org/publication/PubMed/12118324" } ] }, { "title": "Resveratrol induced serine phosphorylation of p53 causes apoptosis in a mutant p53 prostate cancer cell line.", "journal": "The Journal of urology", "date": "2002", "authors": "Lin HY, Shih A, Davis FB, Tang HY, Martino LJ, Bennett JA, Davis PJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12131363", "url": "https://glygen.org/publication/PubMed/12131363" } ] }, { "title": "Molecular interpretation of ERK signal duration by immediate early gene products.", "journal": "Nature cell biology", "date": "2002", "authors": "Murphy LO, Smith S, Chen RH, Fingar DC, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "12134156", "url": "https://glygen.org/publication/PubMed/12134156" } ] }, { "title": "Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex.", "journal": "Nature cell biology", "date": "2002", "authors": "Brugnera E, Haney L, Grimsley C, Lu M, Walk SF, Tosello-Trampont AC, Macara IG, Madhani H, Fink GR, Ravichandran KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12134158", "url": "https://glygen.org/publication/PubMed/12134158" } ] }, { "title": "Sequential involvement of Cdk1, mTOR and p53 in apoptosis induced by the HIV-1 envelope.", "journal": "The EMBO journal", "date": "2002", "authors": "Castedo M, Roumier T, Blanco J, Ferri KF, Barretina J, Tintignac LA, Andreau K, Perfettini JL, Amendola A, Nardacci R, Leduc P, Ingber DE, Druillennec S, Roques B, Leibovitch SA, Vilella-Bach M, Chen J, Este JA, Modjtahedi N, Piacentini M, Kroemer G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12145207", "url": "https://glygen.org/publication/PubMed/12145207" } ] }, { "title": "ATM is activated in response to N-methyl-N'-nitro-N-nitrosoguanidine-induced DNA alkylation.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Adamson AW, Kim WJ, Shangary S, Baskaran R, Brown KD", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": 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U.S.A.", "date": "2003", "authors": "Kondo S, Lu Y, Debbas M, Lin AW, Sarosi I, Itie A, Wakeham A, Tuan J, Saris C, Elliott G, Ma W, Benchimol S, Lowe SW, Mak TW, Thukral SK", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12702766", "url": "https://glygen.org/publication/PubMed/12702766" } ] }, { "title": "Peroxiredoxin evolution and the regulation of hydrogen peroxide signaling.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Wood ZA, Poole LB, Karplus PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12714747", "url": "https://glygen.org/publication/PubMed/12714747" } ] }, { "title": "Nitric oxide promotes p53 nuclear 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"12767922", "url": "https://glygen.org/publication/PubMed/12767922" } ] }, { "title": "Cytology vs molecular analysis for the detection of head and neck squamous cell carcinoma in oesopharyngeal brush samples: a prospective study in 56 patients.", "journal": "British journal of cancer", "date": "2003", "authors": "Temam S, Trassard M, Leroux G, Bosq J, Luboinski B, Lenoir G, Benard J, Janot F", "evidence": [ { "database": "dbSNP", "id": "rs1057519986", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519986" } ], "reference": [ { "type": "PubMed", "id": "12771990", "url": "https://glygen.org/publication/PubMed/12771990" } ] }, { "title": "A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein.", "journal": "The EMBO journal", "date": "2003", "authors": "Foray N, Marot D, Gabriel A, Randrianarison V, Carr AM, Perricaudet M, Ashworth A, Jeggo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": 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} ] }, { "title": "Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks.", "journal": "Nature cell biology", "date": "2003", "authors": "Celeste A, Fernandez-Capetillo O, Kruhlak MJ, Pilch DR, Staudt DW, Lee A, Bonner RF, Bonner WM, Nussenzweig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "12792649", "url": "https://glygen.org/publication/PubMed/12792649" } ] }, { "title": "Ursolic acid induces apoptosis through caspase-3 activation and cell cycle arrest in HaCat cells.", "journal": "International journal of oncology", "date": "2003", "authors": "Harmand PO, Duval R, Liagre B, Jayat-Vignoles C, Beneytout JL, Delage C, Simon A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12792782", "url": "https://glygen.org/publication/PubMed/12792782" } ] }, { "title": "Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.", "journal": "Genes, chromosomes & cancer", "date": "2003", "authors": "Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12800156", "url": "https://glygen.org/publication/PubMed/12800156" } ] }, { "title": "Regulation of PRAK subcellular location by p38 MAP kinases.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "New L, Jiang Y, Han J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "12808055", "url": "https://glygen.org/publication/PubMed/12808055" } ] }, { "title": "The promyelocytic leukemia protein protects p53 from Mdm2-mediated inhibition and degradation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Louria-Hayon I, Grossman T, Sionov RV, Alsheich O, Pandolfi PP, Haupt Y", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" } ] }, { "title": "Caffeine induces G2/M arrest and apoptosis via a novel p53-dependent pathway in NB4 promyelocytic leukemia cells.", "journal": "Journal of cellular physiology", "date": "2003", "authors": "Ito K, Nakazato T, Miyakawa Y, Yamato K, Ikeda Y, Kizaki M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": 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"evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "12832402", "url": "https://glygen.org/publication/PubMed/12832402" } ] }, { "title": "Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "McCarthy EE, Celebi JT, Baer R, Ludwig T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "12832489", "url": "https://glygen.org/publication/PubMed/12832489" } ] }, { "title": "TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are partners in regulating p53 activity.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Tomasini R, Samir AA, Carrier A, Isnardon D, Cecchinelli B, Soddu S, Malissen B, Dagorn JC, Iovanna JL, Dusetti NJ", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12851404", "url": "https://glygen.org/publication/PubMed/12851404" } ] }, { "title": "NB1011 induces Ser15 phosphorylation of p53 and activates the G2/M checkpoint.", "journal": "Anti-cancer drugs", "date": "2003", "authors": "Dellinger RW, Karjian PL, Neuteboom ST", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12853888", "url": "https://glygen.org/publication/PubMed/12853888" } ] }, { "title": "Ataxia telangiectasia-mutated protein can regulate p53 and neuronal death independent of Chk2 in response to DNA damage.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Keramaris E, Hirao A, Slack RS, Mak TW, Park DS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12857758", "url": "https://glygen.org/publication/PubMed/12857758" } ] }, { "title": "The PHD finger of the chromatin-associated protein ING2 functions as a nuclear phosphoinositide receptor.", "journal": "Cell", "date": "2003", "authors": "Gozani O, Karuman P, Jones DR, Ivanov D, Cha J, Lugovskoy AA, Baird CL, Zhu H, Field SJ, Lessnick SL, Villasenor J, Mehrotra B, Chen J, Rao VR, Brugge JS, Ferguson CG, Payrastre B, Myszka DG, Cantley LC, Wagner G, Divecha N, Prestwich GD, Yuan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811555" } ], 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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "12890146", "url": "https://glygen.org/publication/PubMed/12890146" } ] }, { "title": "Activation of p53 by oxidative stress involves platelet-derived growth factor-beta receptor-mediated ataxia telangiectasia mutated (ATM) kinase activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chen K, Albano A, Ho A, Keaney JF Jr", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12890678", "url": "https://glygen.org/publication/PubMed/12890678" } ] }, { "title": "The BRCA1/BARD1 heterodimer assembles polyubiquitin chains through an unconventional linkage involving lysine residue K6 of ubiquitin.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wu-Baer F, Lagrazon K, Yuan W, Baer R", 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"7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "12901974", "url": "https://glygen.org/publication/PubMed/12901974" } ] }, { "title": "Myc and E2F1 induce p53 through p14ARF-independent mechanisms in human fibroblasts.", "journal": "Oncogene", "date": "2003", "authors": "Lindstrom MS, Wiman KG", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12902982", "url": "https://glygen.org/publication/PubMed/12902982" } ] }, { "title": "Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.", "journal": "Current biology : CB", "date": "2003", "authors": "Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": 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"date": "2003", "authors": "Rao VA, Plunkett W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12912974", "url": "https://glygen.org/publication/PubMed/12912974" } ] }, { "title": "Functional homology between yeast piD261/Bud32 and human PRPK: both phosphorylate p53 and PRPK partially complements piD261/Bud32 deficiency.", "journal": "FEBS letters", "date": "2003", "authors": "Facchin S, Lopreiato R, Ruzzene M, Marin O, Sartori G, Gotz C, Montenarh M, Carignani G, Pinna LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12914926", "url": "https://glygen.org/publication/PubMed/12914926" } ] }, { "title": "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.", "journal": "Nature", "date": "2003", "authors": "Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917689", "url": "https://glygen.org/publication/PubMed/12917689" } ] }, { "title": "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.", "journal": "Nature", "date": "2003", "authors": "Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917691", "url": "https://glygen.org/publication/PubMed/12917691" } ] }, { "title": "Apoptotic cascade initiated by angiotensin II in neonatal cardiomyocytes: role of DNA damage.", "journal": "American journal of physiology. Heart and circulatory physiology", "date": "2003", "authors": "Grishko V, Pastukh V, Solodushko V, Gillespie M, Azuma J, Schaffer S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12919932", "url": "https://glygen.org/publication/PubMed/12919932" } ] }, { "title": "ALK+, CD30-, CD20- large B-cell lymphoma containing anaplastic lymphoma kinase (ALK) fused to clathrin heavy chain gene (CLTC).", "journal": "Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc", "date": "2003", "authors": "Chikatsu N, Kojima H, Suzukawa K, Shinagawa A, Nagasawa T, Ozawa H, Yamashita Y, Mori N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12920229", "url": "https://glygen.org/publication/PubMed/12920229" } ] }, { "title": "Nitric oxide prevents UV-induced phosphorylation of the p53 tumor-suppressor protein at serine 46: a possible role in inhibition of apoptosis.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Fukunaga-Takenaka R, Fukunaga K, Tatemichi M, Ohshima H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12927814", "url": "https://glygen.org/publication/PubMed/12927814" } ] }, { "title": "Inhibition of JAK3 induces apoptosis and decreases anaplastic lymphoma kinase activity in anaplastic large cell lymphoma.", "journal": "Oncogene", "date": "2003", "authors": "Amin HM, Medeiros LJ, Ma Y, Feretzaki M, Das P, Leventaki V, Rassidakis GZ, O'Connor SL, McDonnell TJ, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "12934099", "url": "https://glygen.org/publication/PubMed/12934099" } ] }, { "title": "The spectrum of mutations in TP53 in laryngeal cancer patients from a high-incidence population shows similarities to many of the known mutational hotspots.", "journal": "Cancer genetics and cytogenetics", "date": "2003", "authors": "Barnard D, Lehmann K, Hoal EG, van Helden PD, Victor TC", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "12935924", "url": "https://glygen.org/publication/PubMed/12935924" } ] }, { "title": "Therapy increases poly-ADP-ribose and p53-Ser392-P levels in recurrent squamous cell lung cancer.", "journal": "Neoplasma", "date": "2003", "authors": "Holownia A, Mroz RM, Kozlowski M, Chyczewska E, Laudanski J, Chyczewski L, Braszko JJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12937839", "url": "https://glygen.org/publication/PubMed/12937839" } ] }, { "title": "Potential role of MLH1 in the induction of p53 and apoptosis by blocking transcription on damaged DNA templates.", "journal": "Molecular cancer research : MCR", "date": "2003", "authors": "Yanamadala S, Ljungman M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "12939400", "url": "https://glygen.org/publication/PubMed/12939400" } ] }, { "title": "Nucleocytoplasmic shuttling of p53 is essential for MDM2-mediated cytoplasmic degradation but not ubiquitination.", "journal": "Mol. Cell. 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"date": "2004", "authors": "Wu Y, Diab I, Zhang X, Izmailova ES, Zehner ZE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "14712222", "url": "https://glygen.org/publication/PubMed/14712222" } ] }, { "title": "Expression of vascular endothelial growth factor in the progression of cervical neoplasia and its relation to angiogenesis and p53 status.", "journal": "Analytical and quantitative cytology and histology", "date": "2003-12", "authors": "Lee Ji Shin, Kim Hyung Seok, Park Jong Tae, Lee Min Cheol, Park Chang Soo", "evidence": [ { "database": "dbSNP", "id": "rs2073332791", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2073332791" } ], "reference": [ { "type": "PubMed", "id": "14714296", "url": "https://glygen.org/publication/PubMed/14714296" } ] }, { "title": "Homeodomain-interacting protein kinase-2 activity and p53 phosphorylation are critical events for cisplatin-mediated apoptosis.", "journal": "Experimental cell research", "date": "2004", "authors": "Di Stefano V, Rinaldo C, Sacchi A, Soddu S, D'Orazi G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14729469", "url": "https://glygen.org/publication/PubMed/14729469" } ] }, { "title": "p53 activation in chronic radiation-treated breast cancer cells: regulation of MDM2/p14ARF.", "journal": "Cancer research", "date": "2004", "authors": "Xia L, Paik A, Li JJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14729628", "url": "https://glygen.org/publication/PubMed/14729628" } ] }, { "title": "Phosphorylation of serine 18 regulates distinct p53 functions in mice.", "journal": "Molecular and cellular biology", "date": 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S, Crook T, Lu X", "evidence": [ { "database": "Reactome", "id": "R-HSA-139915", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-139915" } ], "reference": [ { "type": "PubMed", "id": "14729977", "url": "https://glygen.org/publication/PubMed/14729977" } ] }, { "title": "Endoplasmic reticulum stress induces p53 cytoplasmic localization and prevents p53-dependent apoptosis by a pathway involving glycogen synthase kinase-3beta.", "journal": "Genes & development", "date": "2004-02-01", "authors": "Qu LiKe, Huang Shirley, Baltzis Dionissios, Rivas-Estilla Ana-Maria, Pluquet Olivier, Hatzoglou Maria, Koumenis Costas, Taya Yoichi, Yoshimura Akihiko, Koromilas Antonis E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14744935", "url": "https://glygen.org/publication/PubMed/14744935" } ] }, { "title": "Quantitative analysis of p53-targeted gene expression and visualization of p53 transcriptional activity following intratumoral administration of adenoviral p53 in vivo.", "journal": "Molecular cancer therapeutics", "date": "2004", "authors": "Ohtani S, Kagawa S, Tango Y, Umeoka T, Tokunaga N, Tsunemitsu Y, Roth JA, Taya Y, Tanaka N, Fujiwara T", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14749479", "url": "https://glygen.org/publication/PubMed/14749479" } ] }, { "title": "Attenuation of the p53 response to DNA damage by high cell density.", "journal": "Oncogene", "date": "2004", "authors": "Bar J, Cohen-Noyman E, Geiger B, Oren M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14755247", "url": "https://glygen.org/publication/PubMed/14755247" } ] }, { "title": "Phosphorylation and nuclear accumulation are distinct events contributing to the activation of p53.", "journal": "Mutation research", "date": "2004", "authors": "O'Hagan HM, Ljungman M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14757188", "url": "https://glygen.org/publication/PubMed/14757188" } ] }, { "title": "Sensitive detection of p53 gene mutations in esophageal endoscopic biopsy specimens by cell sorting combined with polymerase chain reaction single-strand conformation polymorphism analysis.", "journal": "Japanese journal of cancer research : Gann", "date": "1992", "authors": "Maesawa C, Tamura G, Suzuki Y, Ishida K, Saito K, Satodate R", "evidence": [ { "database": "dbSNP", "id": "rs1057519986", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519986" } ], "reference": [ { "type": "PubMed", "id": "1483940", "url": 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serine 15-phosphorylated p53.", "journal": "DNA and cell biology", "date": "2004", "authors": "Schultz L, Khera S, Sleve D, Heath J, Chang NS", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "14965474", "url": "https://glygen.org/publication/PubMed/14965474" } ] }, { "title": "The Barrett's antigen anterior gradient-2 silences the p53 transcriptional response to DNA damage.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Pohler E, Craig AL, Cotton J, Lawrie L, Dillon JF, Ross P, Kernohan N, Hupp TR", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14967811", "url": "https://glygen.org/publication/PubMed/14967811" } ] }, { "title": "Modulation of p53 transcription regulatory activity and post-translational modification by hepatitis C virus core protein.", "journal": "Oncogene", "date": "2004", "authors": "Kao CF, Chen SY, Chen JY, Wu Lee YH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "14968111", "url": "https://glygen.org/publication/PubMed/14968111" } ] }, { "title": "Cdc25C phosphorylation on serine 191 by Plk3 promotes its nuclear translocation.", "journal": "Oncogene", "date": "2004", "authors": "Bahassi el M, Hennigan RF, Myer DL, Stambrook PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804115", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804115" } ], "reference": [ { "type": "PubMed", "id": "14968113", "url": "https://glygen.org/publication/PubMed/14968113" } ] }, { "title": "p53 regulates thymic Notch1 activation.", "journal": "European journal of immunology", "date": "2004", "authors": "Laws AM, Osborne BA", "evidence": [ { 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cell", "date": "2004", "authors": "Li HH, Li AG, Sheppard HM, Liu X", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "15053879", "url": "https://glygen.org/publication/PubMed/15053879" } ] }, { "title": "A dynamic role of HAUSP in the p53-Mdm2 pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Li M, Brooks CL, Kon N, Gu W", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "15053880", "url": 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Davis FB, Davis PJ, Lin HY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "15542774", "url": "https://glygen.org/publication/PubMed/15542774" } ] }, { "title": "p53 Stabilization and accumulation induced by human vaccinia-related kinase 1.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Vega FM, Sevilla A, Lazo PA", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "15542844", "url": "https://glygen.org/publication/PubMed/15542844" } ] }, { "title": "Integrin alphav-mediated inactivation of p53 controls a MEK1-dependent melanoma cell survival pathway in three-dimensional collagen.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Bao W, Stromblad S", "evidence": [ { "database": "iPTMnet", "id": 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Resnick-Silverman L, Liu WJ, Padi A, Dastidar J, DaCosta A, Mattia M, Manfredi JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804114", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804114" } ], "reference": [ { "type": "PubMed", "id": "15574328", "url": "https://glygen.org/publication/PubMed/15574328" } ] }, { "title": "The BCL6 proto-oncogene suppresses p53 expression in germinal-centre B cells.", "journal": "Nature", "date": "2004", "authors": "Phan RT, Dalla-Favera R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803205" } ], "reference": [ { "type": "PubMed", "id": "15577913", "url": "https://glygen.org/publication/PubMed/15577913" } ] }, { "title": "Caspase-1 activator Ipaf is a p53-inducible gene involved in apoptosis.", "journal": "Oncogene", "date": "2005", "authors": "Sadasivam S, Gupta S, Radha V, Batta K, Kundu TK, Swarup G", "evidence": [ { "database": "Reactome", "id": 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second malignant neoplasms.", "journal": "The New England journal of medicine", "date": "1992", "authors": "Malkin D, Jolly KW, Barbier N, Look AT, Friend SH, Gebhardt MC, Andersen TI, Borresen AL, Li FP, Garber J, et al.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "1565144", "url": "https://glygen.org/publication/PubMed/1565144" } ] }, { "title": "The p400 E1A-associated protein is a novel component of the p53 --> p21 senescence pathway.", "journal": "Genes & development", "date": "2005", "authors": "Chan HM, Narita M, Lowe SW, Livingston DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559584" } ], "reference": [ { "type": "PubMed", "id": "15655109", "url": "https://glygen.org/publication/PubMed/15655109" } ] }, { "title": "Epigallocatechin-3-gallate induces apoptosis in estrogen receptor-negative human 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Chem.", "date": "2005", "authors": "Jalota A, Singh K, Pavithra L, Kaul-Ghanekar R, Jameel S, Chattopadhyay S", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "15701641", "url": "https://glygen.org/publication/PubMed/15701641" } ] }, { "title": "Mutation analysis of p53, K-ras, and BRAF genes in colorectal cancer progression.", "journal": "Journal of cellular physiology", "date": "2005", "authors": "Calistri D, Rengucci C, Seymour I, Lattuneddu A, Polifemo AM, Monti F, Saragoni L, Amadori D", "evidence": [ { "database": "dbSNP", "id": "rs765848205", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765848205" } ], "reference": [ { "type": "PubMed", "id": "15702478", "url": "https://glygen.org/publication/PubMed/15702478" } ] }, { "title": "Modulation of p53 binding to Holliday junctions and 3-cytosine bulges by phosphorylation events.", "journal": "Biochemistry", 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Chem.", "date": "2005", "authors": "Golubovskaya Vita M, Finch Richard, Cance William G", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "15855171", "url": "https://glygen.org/publication/PubMed/15855171" } ] }, { "title": "AMP-activated protein kinase induces a p53-dependent metabolic checkpoint.", "journal": "Molecular cell", "date": "2005", "authors": "Jones RG, Plas DR, Kubek S, Buzzai M, Mu J, Xu Y, Birnbaum MJ, Thompson CB", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "15866171", "url": "https://glygen.org/publication/PubMed/15866171" } ] }, { 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"2005", "authors": "Eriksen JG, Alsner J, Steiniche T, Overgaard J", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "16024113", "url": "https://glygen.org/publication/PubMed/16024113" } ] }, { "title": "Nitric oxide-induced apoptosis in lymphoblastoid and fibroblast cells dependent on the phosphorylation and activation of p53.", "journal": "Cancer research", "date": "2005", "authors": "McLaughlin LM, Demple B", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16024610", "url": "https://glygen.org/publication/PubMed/16024610" } ] }, { "title": "ING2 regulates the onset of replicative senescence by induction of p300-dependent p53 acetylation.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Pedeux R, Sengupta S, 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JNK kinase in prostate cancer cells.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2005", "authors": "Zerbini LF, Wang Y, Correa RG, Cho JY, Libermann TA", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16082226", "url": "https://glygen.org/publication/PubMed/16082226" } ] }, { "title": "Advantage of a baculovirus expression system for protein-protein interaction studies. Involvement of posttranslational phosphorylation in the interaction between wt p53 protein and poly(ADP-ribose) polymerase-1.", "journal": "Acta biochimica Polonica", "date": "2005", "authors": "Schmid G, Wojciechowski J, Wesierska-Gadek J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16082409", "url": "https://glygen.org/publication/PubMed/16082409" } ] }, { "title": "Global phosphoproteome of HT-29 human colon adenocarcinoma cells.", "journal": "Journal of proteome research", "date": "2005", "authors": "Kim JE, Tannenbaum SR, White FM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" } ] }, { "title": "Usnic acid: a non-genotoxic compound with anti-cancer properties.", "journal": "Anti-cancer drugs", "date": "2005", "authors": "Mayer M, O'Neill MA, Murray KE, Santos-Magalhaes NS, Carneiro-Leao AM, Thompson AM, Appleyard VC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16096427", "url": "https://glygen.org/publication/PubMed/16096427" } ] }, { "title": "Germline p53 mutation presenting as synchronous tumors.", "journal": "Journal of pediatric hematology/oncology", "date": "2005", "authors": "Cavalier ME, Davis MM, Croop JM", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "16096528", "url": "https://glygen.org/publication/PubMed/16096528" } ] }, { "title": "Human cytomegalovirus IE1-72 activates ataxia telangiectasia mutated kinase and a p53/p21-mediated growth arrest response.", "journal": "Journal of virology", "date": "2005", 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Murray-Zmijewski F, Liu G, Diot A, Xirodimas DP, Saville MK, Lane DP", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ], "reference": [ { "type": "PubMed", "id": "16131611", "url": "https://glygen.org/publication/PubMed/16131611" } ] }, { "title": "Role of p73 in regulating human caspase-1 gene transcription induced by interferon-{gamma} and cisplatin.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Jain N, Gupta S, Sudhakar Ch, Radha V, Swarup G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "16135520", "url": "https://glygen.org/publication/PubMed/16135520" } ] }, { "title": "RUNX3 suppresses gastric epithelial cell growth by inducing p21(WAF1/Cip1) expression in cooperation with transforming growth factor {beta}-activated SMAD.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Chi XZ, Yang JO, Lee KY, Ito K, Sakakura C, Li QL, Kim HR, Cha EJ, Lee YH, Kaneda A, Ushijima T, Kim WJ, Ito Y, Bae SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8941855", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8941855" } ], "reference": [ { "type": "PubMed", "id": "16135801", "url": "https://glygen.org/publication/PubMed/16135801" } ] }, { "title": "Telomerase-immortalized human fibroblasts retain UV-induced mutagenesis and p53-mediated DNA damage responses.", "journal": "DNA repair", "date": "2006", "authors": "Porter PC, Clark DR, McDaniel LD, McGregor WG, States JC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16140041", "url": "https://glygen.org/publication/PubMed/16140041" } ] }, { 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131691034" } ], "reference": [ { "type": "PubMed", "id": "16696020", "url": "https://glygen.org/publication/PubMed/16696020" } ] }, { "title": "Differential promoter usage for insulin-like growth factor-II gene in Chinese hepatocellular carcinoma with hepatitis B virus infection.", "journal": "Cancer detection and prevention", "date": "2006", "authors": "Tang SH, Yang DH, Huang W, Zhou M, Zhou HK, Lu XH, Ye G", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "16697535", "url": "https://glygen.org/publication/PubMed/16697535" } ] }, { "title": "Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1.", "journal": "Genes & development", "date": "2006", "authors": "Zhang CL, Zou Y, Yu RT, Gage FH, Evans RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "16702404", "url": "https://glygen.org/publication/PubMed/16702404" } ] }, { "title": "The subcellular localization of vaccinia-related kinase-2 (VRK2) isoforms determines their different effect on p53 stability in tumour cell lines.", "journal": "The FEBS journal", "date": "2006", "authors": "Blanco S, Klimcakova L, Vega FM, Lazo PA", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16704422", "url": "https://glygen.org/publication/PubMed/16704422" } ] }, { "title": "GAS41 is required for repression of the p53 tumor suppressor pathway during normal cellular proliferation.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Park JH, Roeder RG", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16705155", "url": "https://glygen.org/publication/PubMed/16705155" } ] }, { "title": "Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma.", "journal": "Cancer research", "date": "2006", "authors": "West AN, Ribeiro RC, Jenkins J, Rodriguez-Galindo C, Figueiredo BC, Kriwacki R, Zambetti GP", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "16707427", "url": "https://glygen.org/publication/PubMed/16707427" } ] }, { "title": "Prostaglandin E2 stimulates p53 transactivational activity through specific serine 15 phosphorylation in human synovial fibroblasts. Role in suppression of c/EBP/NF-kappaB-mediated MEKK1-induced MMP-1 expression.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Faour WH, He Q, Mancini A, Jovanovic D, Antoniou J, Di Battista JA", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16714289", "url": "https://glygen.org/publication/PubMed/16714289" } ] }, { "title": "Phosphorylation and gene expression of p53 are not affected in human cells exposed to 2.1425 GHz band CW or W-CDMA modulated radiation allocated to mobile radio base stations.", "journal": "Bioelectromagnetics", "date": "2006", "authors": "Hirose H, Sakuma N, Kaji N, Suhara T, Sekijima M, Nojima T, Miyakoshi J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16715525", "url": 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Gurtner A, Gasbarri A, Ulivieri A, Del Prete F, Trovato M, Piaggio G, Bartolazzi A, Soddu S, Sciacchitano S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16738336", "url": "https://glygen.org/publication/PubMed/16738336" } ] }, { "title": "Cdk9 phosphorylates p53 on serine 392 independently of CKII.", "journal": "Journal of cellular physiology", "date": "2006", "authors": "Claudio PP, Cui J, Ghafouri M, Mariano C, White MK, Safak M, Sheffield JB, Giordano A, Khalili K, Amini S, Sawaya BE", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16741955", "url": "https://glygen.org/publication/PubMed/16741955" } ] }, { "title": "p53-dependent inhibition of mammalian cell survival by a genetically selected peptide aptamer that targets the regulatory subunit of protein kinase CK2.", "journal": "Oncogene", "date": "2006", "authors": "Martel V, Filhol O, Colas P, Cochet C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16751801", "url": "https://glygen.org/publication/PubMed/16751801" } ] }, { "title": "Polo-like kinase 1 regulates mitotic arrest after UV irradiation through dephosphorylation of p53 and inducing p53 degradation.", "journal": "FEBS letters", "date": "2006", "authors": "Chen J, Dai G, Wang YQ, Wang S, Pan FY, Xue B, Zhao DH, Li CJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16753148", "url": "https://glygen.org/publication/PubMed/16753148" } ] }, { "title": "Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process.", "journal": "American journal of physiology. Cell physiology", "date": "2006", "authors": "Fontanesi F, Soto IC, Horn D, Barrientos A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16760263", "url": "https://glygen.org/publication/PubMed/16760263" } ] }, { "title": "Gadd45a interacts with aurora-A and inhibits its kinase activity.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Shao S, Wang Y, Jin S, Song Y, Wang X, Fan W, Zhao Z, Fu M, Tong T, Dong L, Fan F, Xu N, Zhan Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804114", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804114" } ], "reference": [ { "type": "PubMed", "id": "16772293", "url": "https://glygen.org/publication/PubMed/16772293" } ] }, { "title": "Silibinin activates p53-caspase 2 pathway and causes caspase-mediated cleavage of Cip1/p21 in apoptosis induction in bladder transitional-cell papilloma RT4 cells: evidence for a regulatory loop between p53 and caspase 2.", "journal": "Carcinogenesis", "date": "2006", "authors": "Tyagi A, Singh RP, Agarwal C, Agarwal R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16777994", "url": "https://glygen.org/publication/PubMed/16777994" } ] }, { "title": "Forodesine, an inhibitor of purine nucleoside phosphorylase, induces apoptosis in chronic lymphocytic leukemia cells.", "journal": "Blood", "date": "2006", "authors": "Balakrishnan K, Nimmanapalli R, Ravandi F, Keating MJ, Gandhi V", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16778146", "url": "https://glygen.org/publication/PubMed/16778146" } ] }, { "title": "The modification of Sp3 isoforms by SUMOylation has differential effects on the SRC1A promoter.", "journal": "Gene", "date": "2006", "authors": "Ellis DJ, Dehm SM, Bonham K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "16781829", "url": "https://glygen.org/publication/PubMed/16781829" } ] }, { "title": "Structure of the Tfb1/p53 complex: Insights into the interaction between the p62/Tfb1 subunit of TFIIH and the activation domain of p53.", "journal": "Molecular cell", "date": "2006", "authors": "Di Lello P, Jenkins LMM, Jones TN, Nguyen BD, Hara T, Yamaguchi H, Dikeakos JD, Appella E, Legault P, Omichinski JG", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16793543", "url": "https://glygen.org/publication/PubMed/16793543" } ] }, { "title": "Structural basis of DNA recognition by p53 tetramers.", "journal": "Molecular cell", "date": "2006", "authors": "Kitayner M, Rozenberg H, Kessler N, Rabinovich D, Shaulov L, Haran TE, Shakked Z", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "16793544", "url": "https://glygen.org/publication/PubMed/16793544" } ] }, { "title": "Cleavage of Cdc6 by caspase-3 promotes ATM/ATR kinase-mediated apoptosis of HeLa cells.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Yim H, Hwang IS, Choi JS, Chun KH, Jin YH, Ham YM, Lee KY, Lee SK", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16801388", "url": "https://glygen.org/publication/PubMed/16801388" } ] }, { "title": "Potent antiproliferative effects of resveratrol on human osteosarcoma SJSA1 cells: Novel cellular mechanisms involving the ERKs/p53 cascade.", "journal": "Free radical biology & medicine", "date": "2006", "authors": "Alkhalaf M, Jaffal S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16814113", "url": "https://glygen.org/publication/PubMed/16814113" } ] }, { "title": "p73 and MDM2 confer the resistance of epidermoid carcinoma to cisplatin by blocking p53.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Hayashi S, Ozaki T, Yoshida K, Hosoda M, Todo S, Akiyama S, Nakagawara A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16815295", "url": "https://glygen.org/publication/PubMed/16815295" } ] }, { "title": "Time-dependent cytotoxicity induced by SJG-136 (NSC 694501): influence of the rate of interstrand cross-link formation on DNA damage signaling.", "journal": "Molecular cancer therapeutics", "date": "2006", "authors": "Arnould S, Spanswick VJ, Macpherson JS, Hartley JA, Thurston DE, Jodrell DI, Guichard SM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16818520", "url": "https://glygen.org/publication/PubMed/16818520" } ] }, { "title": "Association of breast cancer outcome with status of p53 and MDM2 SNP309.", "journal": "Journal of the National Cancer Institute", "date": "2006", "authors": "Boersma BJ, Howe TM, Goodman JE, Yfantis HG, Lee DH, Chanock SJ, Ambs S", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "16818855", "url": "https://glygen.org/publication/PubMed/16818855" } ] }, { "title": "Loss of SHP1 enhances JAK3/STAT3 signaling and decreases proteosome degradation of JAK3 and NPM-ALK in ALK+ anaplastic large-cell lymphoma.", "journal": "Blood", "date": "2006", "authors": "Han Y, Amin HM, Franko B, Frantz C, Shi X, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16825495", "url": "https://glygen.org/publication/PubMed/16825495" } ] }, { "title": "Coupling mitochondrial respiratory chain to cell death: an essential role of mitochondrial complex I in the interferon-beta and retinoic acid-induced cancer cell death.", "journal": "Cell death and differentiation", "date": "2007", "authors": "Huang G, Chen Y, Lu H, Cao X", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "16826196", "url": "https://glygen.org/publication/PubMed/16826196" } ] }, { "title": 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"journal": "Nat. Cell Biol.", "date": "2006", "authors": "Tang J, Qu LK, Zhang J, Wang W, Michaelson JS, Degenhardt YY, El-Deiry WS, Yang X", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "16845383", "url": "https://glygen.org/publication/PubMed/16845383" } ] }, { "title": "Involvement of novel autophosphorylation sites in ATM activation.", "journal": "The EMBO journal", "date": "2006", "authors": "Kozlov SV, Graham ME, Peng C, Chen P, Robinson PJ, Lavin MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559586" } ], "reference": [ { "type": "PubMed", "id": "16858402", "url": "https://glygen.org/publication/PubMed/16858402" } ] }, { "title": "Restoration of shp1 expression by 5-AZA-2'-deoxycytidine is associated with downregulation of JAK3/STAT3 signaling in ALK-positive anaplastic large cell lymphoma.", "journal": "Leukemia", "date": "2006", "authors": "Han Y, Amin HM, Frantz C, Franko B, Lee J, Lin Q, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "16871283", "url": "https://glygen.org/publication/PubMed/16871283" } ] }, { "title": "Inorganic selenium sensitizes prostate cancer cells to TRAIL-induced apoptosis through superoxide/p53/Bax-mediated activation of mitochondrial pathway.", "journal": "Molecular cancer therapeutics", "date": "2006", "authors": "Hu H, Jiang C, Schuster T, Li GX, Daniel PT, Lu J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "16891474", "url": "https://glygen.org/publication/PubMed/16891474" } ] }, { "title": 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Cell physiology", "date": "2007", "authors": "Zhang AH, Rao JN, Zou T, Liu L, Marasa BS, Xiao L, Chen J, Turner DJ, Wang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803205" } ], "reference": [ { "type": "PubMed", "id": "17442733", "url": "https://glygen.org/publication/PubMed/17442733" } ] }, { "title": "Anaphase initiation is regulated by antagonistic ubiquitination and deubiquitination activities.", "journal": "Nature", "date": "2007", "authors": "Stegmeier F, Rape M, Draviam VM, Nalepa G, Sowa ME, Ang XL, McDonald ER 3rd, Li MZ, Hannon GJ, Sorger PK, Kirschner MW, Harper JW, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "17443180", "url": "https://glygen.org/publication/PubMed/17443180" } ] }, { "title": "High radiosensitivity of germ cells in human male fetus.", 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"database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17565690", "url": "https://glygen.org/publication/PubMed/17565690" } ] }, { "title": "Zfra affects TNF-mediated cell death by interacting with death domain protein TRADD and negatively regulates the activation of NF-kappaB, JNK1, p53 and WOX1 during stress response.", "journal": "BMC molecular biology", "date": "2007", "authors": "Hong Q, Hsu LJ, Schultz L, Pratt N, Mattison J, Chang NS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17567906", "url": "https://glygen.org/publication/PubMed/17567906" } ] }, { "title": "Fra-1 and Stat3 synergistically regulate activation of human MMP-9 gene.", "journal": "Molecular immunology", "date": "2008", "authors": "Song Y, Qian L, Song S, Chen L, Zhang Y, Yuan G, Zhang H, Xia Q, Hu M, Yu M, Shi M, Jiang Z, Guo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "17572495", "url": "https://glygen.org/publication/PubMed/17572495" } ] }, { "title": "Time and dose-dependent activation of p53 serine 15 phosphorylation among cell lines with different radiation sensitivity.", "journal": "International journal of radiation biology", "date": "2007", "authors": "Wittlinger M, Grabenbauer GG, Sprung CN, Sauer R, Distel LV", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17575952", "url": "https://glygen.org/publication/PubMed/17575952" } ] }, { "title": "Latent membrane protein 1 of Epstein-Barr virus regulates p53 phosphorylation through MAP kinases.", "journal": "Cancer letters", "date": "2007", "authors": "Li L, Guo L, Tao Y, Zhou S, Wang Z, Luo W, Hu D, Li Z, Xiao L, Tang M, Yi W, Tsao SW, Cao Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17582679", "url": "https://glygen.org/publication/PubMed/17582679" } ] }, { "title": "Ser46 phosphorylation of p53 is not always sufficient to induce apoptosis: multiple mechanisms of regulation of p53-dependent apoptosis.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2007", "authors": "Kurihara A, Nagoshi H, Yabuki M, Okuyama R, Obinata M, Ikawa S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17584297", "url": "https://glygen.org/publication/PubMed/17584297" } ] }, { "title": "Stabilization and activation of p53 induced by Cdk5 contributes to neuronal cell death.", "journal": "Journal of cell science", "date": "2007", "authors": "Lee JH, Kim HS, Lee SJ, Kim KT", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17591690", "url": "https://glygen.org/publication/PubMed/17591690" } ] }, { "title": "Cyclosporine A induces senescence in renal tubular epithelial cells.", "journal": "American journal of physiology. Renal physiology", "date": "2007", "authors": "Jennings P, Koppelstaetter C, Aydin S, Abberger T, Wolf AM, Mayer G, Pfaller W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17596534", "url": "https://glygen.org/publication/PubMed/17596534" } ] }, { "title": "Cadmium induces mitochondria-dependent apoptosis of normal human hepatocytes.", "journal": "Cell biology and toxicology", "date": "2008", "authors": "Lasfer M, Vadrot N, Aoudjehane L, Conti F, Bringuier AF, Feldmann G, Reyl-Desmars F", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17610031", "url": "https://glygen.org/publication/PubMed/17610031" } ] }, { "title": "TGF-beta in intestinal lymphoid organs contributes to the death of armed effector CD8 T cells and is associated with the absence of virus containment in rhesus macaques infected with the simian immunodeficiency virus.", "journal": "Cell death and differentiation", "date": "2007", "authors": "Cumont MC, Monceaux V, Viollet L, Lay S, Parker R, Hurtrel B, Estaquier J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17612589", "url": "https://glygen.org/publication/PubMed/17612589" } ] }, { "title": "RPA and ATR link transcriptional stress to p53.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Derheimer FA, O'Hagan HM, Krueger HM, Hanasoge S, Paulsen MT, Ljungman M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17616578", "url": "https://glygen.org/publication/PubMed/17616578" } ] }, { "title": "Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.", "journal": "Nature", "date": "2007", "authors": "Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "17625570", "url": "https://glygen.org/publication/PubMed/17625570" } ] }, { "title": "p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.", "journal": "Clinical & experimental metastasis", "date": "2007", "authors": "Dong P, Tada M, Hamada J, Nakamura A, Moriuchi T, Sakuragi N", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": 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2nd, Gardner G, Bristow R, Wang TL, Shih IM", "evidence": [ { "database": "dbSNP", "id": "rs28934571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934571" } ], "reference": [ { "type": "PubMed", "id": "17692090", "url": "https://glygen.org/publication/PubMed/17692090" } ] }, { "title": "MRE11-RAD50-NBS1 and ATM function as co-mediators of TRF1 in telomere length control.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Wu Y, Xiao S, Zhu XD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559586" } ], "reference": [ { "type": "PubMed", "id": "17694070", "url": "https://glygen.org/publication/PubMed/17694070" } ] }, { "title": "Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?", "journal": "Human mutation", "date": "2008", "authors": "Anczukow O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D, 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induction of p53/p21 and the initiation of mitochondrial system in human non-small cell lung cancer A549 cells.", "journal": "European journal of pharmacology", "date": "2007", "authors": "Chen CY, Hsu YL, Chen YY, Hung JY, Huang MS, Kuo PL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17707793", "url": "https://glygen.org/publication/PubMed/17707793" } ] }, { "title": "Phosphorylation and activation of the atypical kinase p53-related protein kinase (PRPK) by Akt/PKB.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2007", "authors": "Facchin S, Ruzzene M, Peggion C, Sartori G, Carignani G, Marin O, Brustolon F, Lopreiato R, Pinna LA", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17712528", "url": 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Ninane N, Raes M, Michiels C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17894897", "url": "https://glygen.org/publication/PubMed/17894897" } ] }, { "title": "Urodele p53 tolerates amino acid changes found in p53 variants linked to human cancer.", "journal": "BMC evolutionary biology", "date": "2007", "authors": "Villiard E, Brinkmann H, Moiseeva O, Mallette FA, Ferbeyre G, Roy S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17903248", "url": "https://glygen.org/publication/PubMed/17903248" } ] }, { "title": "SVH-B interacts directly with p53 and suppresses the transcriptional activity of p53.", "journal": "FEBS Lett.", "date": "2007", "authors": "Zhou Xinyuan, Yang Guohua, Huang Ruimin, Chen Xiaotao, Hu Gengxi", "evidence": [ { 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"evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17918180", "url": "https://glygen.org/publication/PubMed/17918180" } ] }, { "title": "Induction of G2/M arrest and apoptosis by sesquiterpene lactones in human melanoma cell lines.", "journal": "Biochemical pharmacology", "date": "2008", "authors": "Rozenblat S, Grossman S, Bergman M, Gottlieb H, Cohen Y, Dovrat S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17919456", "url": "https://glygen.org/publication/PubMed/17919456" } ] }, { "title": "DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Sun Y, Xu Y, Roy K, Price BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559586", 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"evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17932951", "url": "https://glygen.org/publication/PubMed/17932951" } ] }, { "title": "Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase regulates stress-induced apoptosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Zou J, Marjanovic J, Kisseleva MV, Wilson M, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811555" } ], "reference": [ { "type": "PubMed", "id": "17940011", "url": "https://glygen.org/publication/PubMed/17940011" } ] }, { "title": "The predictive value of molecular markers (p53, EGFR, ATM, CHK2) in multimodally treated squamous cell carcinoma of the oesophagus.", "journal": "British journal of cancer", "date": "2007", "authors": "Sarbia M, Ott N, Puhringer-Oppermann F, Brucher BL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17940507", "url": "https://glygen.org/publication/PubMed/17940507" } ] }, { "title": "Kaposi's sarcoma-associated herpesvirus K-cyclin interacts with Cdk9 and stimulates Cdk9-mediated phosphorylation of p53 tumor suppressor.", "journal": "Journal of virology", "date": "2008", "authors": "Chang PC, Li M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17942552", "url": "https://glygen.org/publication/PubMed/17942552" } ] }, { "title": "Hbo1 Links p53-dependent stress signaling to DNA replication licensing.", "journal": "Mol. Cell. Biol.", "date": "2008", "authors": "Iizuka M, Sarmento OF, Sekiya T, Scrable H, Allis CD, Smith MM", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "17954561", "url": "https://glygen.org/publication/PubMed/17954561" } ] }, { "title": "Modulation of the p53-MDM2 interaction by phosphorylation of Thr18: a computational study.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2007", "authors": "Lee HJ, Srinivasan D, Coomber D, Lane DP, Verma CS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17957142", "url": "https://glygen.org/publication/PubMed/17957142" } ] }, { "title": "[Posttranslational p53 phosphorylation in non small cell lung cancer cells after radio/chemotherapy].", "journal": "Pneumonologia i alergologia polska", "date": "2007", "authors": "Holownia A, Mroz RM, Kozlowski M, Chyczewska E, Laudanski J, Chyczewski L, Braszko JJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17966099", "url": "https://glygen.org/publication/PubMed/17966099" } ] }, { "title": "Serine 15 phosphorylation of p53 directs its interaction with B56gamma and the tumor suppressor activity of B56gamma-specific protein phosphatase 2A.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Shouse GP, Cai X, Liu X", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17967874", "url": "https://glygen.org/publication/PubMed/17967874" } ] }, { "title": "Combination therapy with PEG-IFN-alpha and 5-FU inhibits HepG2 tumour cell growth in nude mice by apoptosis of p53.", "journal": "British journal of cancer", "date": "2007-12-03", "authors": "Hagiwara S, Kudo M, Nakatani T, Sakaguchi Y, Nagashima M, Fukuta N, Kimura M, Hayakawa S, Munakata H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17971768", "url": "https://glygen.org/publication/PubMed/17971768" } ] }, { "title": "Suppression of PTEN expression is essential for antiapoptosis and cellular transformation by oncogenic Ras.", "journal": "Cancer research", "date": "2007", "authors": "Vasudevan KM, Burikhanov R, Goswami A, Rangnekar VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "17974977", "url": "https://glygen.org/publication/PubMed/17974977" } ] }, { "title": "An ATM- and Rad3-related (ATR) signaling pathway and a phosphorylation-acetylation cascade are involved in activation of p53/p21Waf1/Cip1 in response to 5-aza-2'-deoxycytidine treatment.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wang H, Zhao Y, Li L, McNutt MA, Wu L, Lu S, Yu Y, Zhou W, Feng J, Chai G, Yang Y, Zhu WG", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "17977830", "url": "https://glygen.org/publication/PubMed/17977830" } ] }, { "title": "Human USP3 is a chromatin modifier required for S phase progression and genome stability.", "journal": "Current biology : CB", "date": "2007", "authors": "Nicassio F, Corrado N, Vissers JH, Areces LB, Bergink S, Marteijn JA, Geverts B, Houtsmuller AB, Vermeulen W, Di Fiore PP, Citterio E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587782329" } ], "reference": [ { "type": "PubMed", "id": "17982662", "url": "https://glygen.org/publication/PubMed/17982662" } ] }, { "title": "RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins.", "journal": "Cell", "date": "2007", "authors": "Mailand N, Bekker-Jensen S, Faustrup H, Melander F, Bartek J, Lukas C, Lukas J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "18001824", "url": "https://glygen.org/publication/PubMed/18001824" } ] }, { "title": "RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly.", "journal": "Cell", "date": "2007", "authors": "Huen MS, Grant R, Manke I, Minn K, Yu X, Yaffe MB, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": 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"2008", "authors": "Viola G, Fortunato E, Cecconet L, Del Giudice L, Dall'Acqua F, Basso G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18048073", "url": "https://glygen.org/publication/PubMed/18048073" } ] }, { "title": "Activation of AMP-activated protein kinase induces p53-dependent apoptotic cell death in response to energetic stress.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Okoshi R, Ozaki T, Yamamoto H, Ando K, Koida N, Ono S, Koda T, Kamijo T, Nakagawara A, Kizaki H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18056705", "url": "https://glygen.org/publication/PubMed/18056705" } ] }, { "title": "Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Wang B, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "18077395", "url": "https://glygen.org/publication/PubMed/18077395" } ] }, { "title": "Temporally distinct response of irradiated normal human fibroblasts and their bystander cells to energetic heavy ions.", "journal": "Mutation research", "date": "2008", "authors": "Hamada N, Ni M, Funayama T, Sakashita T, Kobayashi Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18082226", "url": "https://glygen.org/publication/PubMed/18082226" } ] }, { "title": "Attenuation of DNA damage-induced p53 expression by arsenic: a possible mechanism for arsenic co-carcinogenesis.", "journal": "Molecular carcinogenesis", "date": "2008", "authors": "Shen S, Lee J, Weinfeld M, Le XC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18085531", "url": "https://glygen.org/publication/PubMed/18085531" } ] }, { "title": "Interaction of human tRNA-dihydrouridine synthase-2 with interferon-induced protein kinase PKR.", "journal": "Nucleic acids research", "date": "2008", "authors": "Mittelstadt M, Frump A, Khuu T, Fowlkes V, Handy I, Patel CV, Patel RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "18096616", "url": "https://glygen.org/publication/PubMed/18096616" } ] }, { "title": "The anaplastic lymphoma kinase in the pathogenesis of cancer.", "journal": "Nature reviews. Cancer", "date": "2008", "authors": "Chiarle R, Voena C, Ambrogio C, Piva R, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "18097461", "url": "https://glygen.org/publication/PubMed/18097461" } ] }, { "title": "Repression of PTEN phosphatase by Snail1 transcriptional factor during gamma radiation-induced apoptosis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Escriva M, Peiro S, Herranz N, Villagrasa P, Dave N, Montserrat-Sentis B, Murray SA, Franci C, Gridley T, Virtanen I, Garcia de Herreros A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18172008", "url": "https://glygen.org/publication/PubMed/18172008" } ] }, { "title": "Deubiquitylation of histone H2A activates transcriptional initiation via trans-histone cross-talk with H3K4 di- and trimethylation.", "journal": "Genes & development", "date": "2008", "authors": "Nakagawa T, Kajitani T, Togo S, Masuko N, Ohdan H, Hishikawa Y, Koji T, Matsuyama T, Ikura T, Muramatsu M, Ito T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "18172164", "url": "https://glygen.org/publication/PubMed/18172164" } ] }, { "title": "A balance between NF-Y and p53 governs the pro- and anti-apoptotic transcriptional response.", "journal": "Nucleic acids research", "date": "2008", "authors": "Benatti P, Basile V, Merico D, Fantoni LI, Tagliafico E, Imbriano C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18187512", "url": "https://glygen.org/publication/PubMed/18187512" } ] }, { "title": 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promotes cell proliferation and survival through FERM-enhanced p53 degradation.", "journal": "Molecular cell", "date": "2008", "authors": "Lim ST, Chen XL, Lim Y, Hanson DA, Vo TT, Howerton K, Larocque N, Fisher SJ, Schlaepfer DD, Ilic D", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "reference": [ { "type": "PubMed", "id": "18206965", "url": "https://glygen.org/publication/PubMed/18206965" } ] }, { "title": "UVB-induced senescence in human keratinocytes requires a functional insulin-like growth factor-1 receptor and p53.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Lewis DA, Yi Q, Travers JB, Spandau DF", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18216278", "url": "https://glygen.org/publication/PubMed/18216278" } ] }, { "title": "Molecular and structural basis of 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ligand.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Gordo S, Martos V, Santos E, Menendez M, Bo C, Giralt E, de Mendoza J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9723905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9723905" } ], "reference": [ { "type": "PubMed", "id": "18940924", "url": "https://glygen.org/publication/PubMed/18940924" } ] }, { "title": "Interleukin-18 increases expression of kinases involved in tau phosphorylation in SH-SY5Y neuroblastoma cells.", "journal": "Journal of neuroimmunology", "date": "2008", "authors": "Ojala JO, Sutinen EM, Salminen A, Pirttila T", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "18947885", "url": "https://glygen.org/publication/PubMed/18947885" } ] }, { "title": "PKR regulates B56(alpha)-mediated BCL2 phosphatase activity in acute lymphoblastic leukemia-derived REH cells.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Ruvolo VR, Kurinna SM, Karanjeet KB, Schuster TF, Martelli AM, McCubrey JA, Ruvolo PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "18957415", "url": "https://glygen.org/publication/PubMed/18957415" } ] }, { "title": "Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma.", "journal": "Journal of pediatric hematology/oncology", "date": "2008", "authors": "Delaney HM, Prauner RD, Person DA", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "18989156", "url": "https://glygen.org/publication/PubMed/18989156" } ] }, { "title": "Structural basis of restoring 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Bartek J, Lukas J, Lukas C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "19203579", "url": "https://glygen.org/publication/PubMed/19203579" } ] }, { "title": "Mapping the interactions of the p53 transactivation domain with the KIX domain of CBP.", "journal": "Biochemistry", "date": "2009", "authors": "Lee CW, Arai M, Martinez-Yamout MA, Dyson HJ, Wright PE", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "19220000", "url": "https://glygen.org/publication/PubMed/19220000" } ] }, { "title": "Tpl-2 kinase downregulates the activity of p53 and enhances signaling pathways leading to activation of activator protein 1 induced by EGF.", "journal": "Carcinogenesis", "date": "2009", "authors": "Khanal P, Lee KY, Kang KW, Kang BS, Choi HS", 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"date": "2009", "authors": "Mikami-Terao Y, Akiyama M, Yuza Y, Yanagisawa T, Yamada O, Kawano T, Agawa M, Ida H, Yamada H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "19328784", "url": "https://glygen.org/publication/PubMed/19328784" } ] }, { "title": "TTK/hMps1 mediates the p53-dependent postmitotic checkpoint by phosphorylating p53 at Thr18.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Huang YF, Chang MD, Shieh SY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "19332559", "url": "https://glygen.org/publication/PubMed/19332559" } ] }, { "title": "A germ line mutation in exon 5 of the p53 gene in an extended cancer family.", "journal": "Cancer research", "date": "1991", "authors": "Law JC, Strong LC, 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"date": "2009-05-12", "authors": "Yoon Cheol-Hee, Lee Eun-Soo, Lim Dae-Seog, Bae Yong-Soo", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "19416861", "url": "https://glygen.org/publication/PubMed/19416861" } ] }, { "title": "The deubiquitinases USP33 and USP20 coordinate beta2 adrenergic receptor recycling and resensitization.", "journal": "The EMBO journal", "date": "2009", "authors": "Berthouze M, Venkataramanan V, Li Y, Shenoy SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "19424180", "url": "https://glygen.org/publication/PubMed/19424180" } ] }, { "title": "Acrylamide-induced astrogliotic and apoptotic responses in human astrocytoma cells.", "journal": "Toxicology in vitro : an international journal published in association with 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cisplatin-induced apoptosis by forming GS28-MDM2-p53 complexes and by preventing the ubiquitination and degradation of p53.", "journal": "The Biochemical journal", "date": "2012", "authors": "Sun NK, Huang SL, Chien KY, Chao CC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "22397410", "url": "https://glygen.org/publication/PubMed/22397410" } ] }, { "title": "Activation of DNA damage response pathways as a consequence of anthracycline-DNA adduct formation.", "journal": "Biochemical pharmacology", "date": "2012", "authors": "Forrest RA, Swift LP, Rephaeli A, Nudelman A, Kimura K, Phillips DR, Cutts SM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "22414726", "url": "https://glygen.org/publication/PubMed/22414726" } ] }, { "title": 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Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA", "evidence": [ { "database": "dbSNP", "id": "rs730882027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730882027" } ], "reference": [ { "type": "PubMed", "id": "22610119", "url": "https://glygen.org/publication/PubMed/22610119" } ] }, { "title": "Aurora B kinase phosphorylates and instigates degradation of p53.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Gully CP, Velazquez-Torres G, Shin JH, Fuentes-Mattei E, Wang E, Carlock C, Chen J, Rothenberg D, Adams HP, 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and enhance p53-mediated growth arrest.", "journal": "PloS one", "date": "2013", "authors": "Azzam G, Wang X, Bell D, Murphy ME", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "24019961", "url": "https://glygen.org/publication/PubMed/24019961" } ] }, { "title": "Oxygen dependence of nitric oxide-mediated signaling.", "journal": "Redox biology", "date": "2013", "authors": "Hickok JR, Vasudevan D, Jablonski K, Thomas DD", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "24024154", "url": "https://glygen.org/publication/PubMed/24024154" } ] }, { "title": "Dominant effects of Delta40p53 on p53 function and melanoma cell fate.", "journal": "The Journal of investigative dermatology", "date": "2014", "authors": "Takahashi R, Markovic SN, Scrable 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