{ "batchid": 2, "recordid": "P04637-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 158, "end_pos": 158, "subjects_tested": "4799", "subjects_positive": "16", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 2 out of 6 filters: patient count (16/4799); num. of cancers (6).", "chr_id": "17", "chr_pos": "7675139", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R158", "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": 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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 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"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" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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", 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"https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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", 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"subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (9); DB annot. 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"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": 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"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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "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" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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 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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": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:7757", "DOID:0080638", 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"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": 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"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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "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": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04637", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04637" } ], "glycoeffect": [], "start_pos": 175, "end_pos": 175, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (18); DB annot. 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"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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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": 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"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, 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"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" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "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 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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": "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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"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": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary 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"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", 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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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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, 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"" }, { "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" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "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" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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 Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:7757", "DOID:0080638", "DOID:5772", "DOID:4960", "DOID:5604", "DOID:0081452", "DOID:1036", "DOID:8527", "DOID:1039", "DOID:6536", "DOID:706" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "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, 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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", 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"name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "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" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": 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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" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "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 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"id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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 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"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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"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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"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": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "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 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"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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "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": 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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": "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" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO: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", 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"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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "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 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Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID: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": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "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 Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "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": 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"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, 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"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" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the 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"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": 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"" }, { "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 Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of 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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": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "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": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "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": 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"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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:7757", "DOID:0080638", "DOID:5772", "DOID:4960", "DOID:5604", "DOID:0081452", "DOID:1036", "DOID:8527", "DOID:1039", "DOID:6536", "DOID:706" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "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", 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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" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "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 Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "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" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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", 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"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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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": 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"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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:1659", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:9460", "DOID:4114", "DOID:2021" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "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 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "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:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM: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" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": 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Zeng Y, Jiao Y, Ying J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "26001147", "url": "https://glygen.org/publication/PubMed/26001147" } ] }, { "title": "Spontaneous gammaH2AX Foci in Human Solid Tumor-Derived Cell Lines in Relation to p21WAF1 and WIP1 Expression.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Mirzayans R, Andrais B, Scott A, Wang YW, Weiss RH, Murray D", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26006237", "url": "https://glygen.org/publication/PubMed/26006237" } ] }, { "title": "ROS-p53-cyclophilin-D signaling mediates salinomycin-induced glioma cell necrosis.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2015", "authors": "Qin LS, Jia PF, Zhang ZQ, Zhang SM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26024660", "url": "https://glygen.org/publication/PubMed/26024660" } ] }, { "title": "MDM2 and P53 polymorphisms contribute together to the risk and survival of prostate cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Xue L, Han X, Liu R, Wang Z, Li H, Chen Q, Zhang P, Wang Z, Chong T", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "26025918", "url": "https://glygen.org/publication/PubMed/26025918" } ] }, { "title": "Real-time and simultaneous monitoring of the phosphorylation and enhanced interaction of p53 and XPC acidic domains with the TFIIH p62 subunit.", "journal": "Oncogenesis", "date": "2015", "authors": "Okuda M, Nishimura Y", "evidence": [ { "database": "iPTMnet", "id": 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beams effectively induce growth inhibition and apoptosis in human neural stem cells compared with glioblastoma A172 cells.", "journal": "Journal of radiation research", "date": "2015", "authors": "Isono M, Yoshida Y, Takahashi A, Oike T, Shibata A, Kubota Y, Kanai T, Ohno T, Nakano T", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26070322", "url": "https://glygen.org/publication/PubMed/26070322" } ] }, { "title": "Structural insight into the TRIAP1/PRELI-like domain family of mitochondrial phospholipid transfer complexes.", "journal": "EMBO reports", "date": "2015", "authors": "Miliara X, Garnett JA, Tatsuta T, Abid Ali F, Baldie H, Perez-Dorado I, Simpson P, Yague E, Langer T, Matthews S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803204", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803204" } ], "reference": [ { "type": "PubMed", "id": 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"http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26106036", "url": "https://glygen.org/publication/PubMed/26106036" } ] }, { "title": "Pyruvate kinase isoenzyme M2 is a therapeutic target of gemcitabine-resistant pancreatic cancer cells.", "journal": "Experimental cell research", "date": "2015", "authors": "Kim DJ, Park YS, Kang MG, You YM, Jung Y, Koo H, Kim JA, Kim MJ, Hong SM, Lee KB, Jang JJ, Park KC, Yeom YI", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26112218", "url": "https://glygen.org/publication/PubMed/26112218" } ] }, { "title": "HIPK2 restricts SIRT1 activity upon severe DNA damage by a phosphorylation-controlled mechanism.", "journal": "Cell death and differentiation", "date": "2016", "authors": "Conrad E, Polonio-Vallon T, Meister M, Matt S, Bitomsky N, Herbel C, Liebl M, Greiner V, Kriznik B, Schumacher S, Krieghoff-Henning E, Hofmann TG", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26113041", "url": "https://glygen.org/publication/PubMed/26113041" } ] }, { "title": "Regulation of p53 during senescence in normal human keratinocytes.", "journal": "Aging cell", "date": "2015", "authors": "Kim RH, Kang MK, Kim T, Yang P, Bae S, Williams DW, Phung S, Shin KH, Hong C, Park NH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26138448", "url": "https://glygen.org/publication/PubMed/26138448" } ] }, { "title": "Aneuploidy generates proteotoxic stress and DNA damage concurrently with p53-mediated post-mitotic apoptosis in SAC-impaired cells.", "journal": "Nature communications", "date": "2015", "authors": "Ohashi A, Ohori M, Iwai K, Nakayama Y, Nambu T, Morishita D, Kawamoto T, Miyamoto M, Hirayama T, Okaniwa M, Banno H, Ishikawa T, Kandori H, Iwata K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26144554", "url": "https://glygen.org/publication/PubMed/26144554" } ] }, { "title": "An open-source computational and data resource to analyze digital maps of immunopeptidomes.", "journal": "eLife", "date": "2015-07-08", "authors": "Caron Etienne, Espona Lucia, Kowalewski Daniel J, Schuster Heiko, Ternette Nicola, Alp\u00edzar Ad\u00e1n, Schittenhelm Ralf B, Ramarathinam Sri H, Lindestam Arlehamn Cecilia S, Chiek Koh Ching, Gillet Ludovic C, Rabsteyn Armin, Navarro Pedro, Kim Sangtae, Lam Henry, Sturm Theo, Marcilla Miguel, Sette Alessandro, Campbell David S, Deutsch Eric W, Moritz Robert L, Purcell Anthony W, Rammensee Hans-Georg, Stevanovic Stefan, Aebersold Ruedi", "evidence": [ { "database": "IEDB", "id": "448433", "url": "https://www.iedb.org/epitope/448433" }, { "database": "IEDB", "id": "448434", "url": "https://www.iedb.org/epitope/448434" }, { "database": "IEDB", "id": "447636", "url": "https://www.iedb.org/epitope/447636" }, { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" }, { "database": "IEDB", "id": "440098", "url": "https://www.iedb.org/epitope/440098" } ], "reference": [ { "type": "PubMed", "id": "26154972", "url": "https://glygen.org/publication/PubMed/26154972" } ] }, { "title": "CCAR2/DBC1 is required for Chk2-dependent KAP1 phosphorylation and repair of DNA damage.", "journal": "Oncotarget", "date": "2015", "authors": "Magni M, Ruscica V, Restelli M, Fontanella E, Buscemi G, Zannini L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26158765", "url": "https://glygen.org/publication/PubMed/26158765" } ] }, { "title": "Stress-mediated Sin3B activation leads to negative regulation of subset of p53 target genes.", "journal": "Bioscience reports", "date": "2015", "authors": "Kadamb R, Mittal S, Bansal N, Saluja D", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26181367", "url": "https://glygen.org/publication/PubMed/26181367" } ] }, { "title": "Erdosteine protects HEI-OC1 auditory cells from cisplatin toxicity through suppression of inflammatory cytokines and induction of Nrf2 target proteins.", "journal": "Toxicology and applied pharmacology", "date": "2015", "authors": "Kim SJ, Park C, Lee JN, Lim H, Hong GY, Moon SK, Lim DJ, Choe SK, Park R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26193055", "url": "https://glygen.org/publication/PubMed/26193055" } ] }, { "title": "microRNA-21 Regulates Cell Proliferation and Migration and Cross Talk with PTEN and p53 in Bladder Cancer.", "journal": "DNA and cell biology", "date": "2015", "authors": "Lei M, Xie W, Sun E, Sun Y, Tian D, Liu C, Han R, Li N, Liu M, Han R, Liu L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26230405", "url": "https://glygen.org/publication/PubMed/26230405" } ] }, { "title": "The presence of wild type p53 in hematological cancers improves the efficacy of combinational therapy targeting metabolism.", "journal": "Oncotarget", "date": "2015", "authors": "Allende-Vega N, Krzywinska E, Orecchioni S, Lopez-Royuela N, Reggiani F, Talarico G, Rossi JF, Rossignol R, Hicheri Y, Cartron G, Bertolini F, Villalba M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26231043", "url": "https://glygen.org/publication/PubMed/26231043" } ] }, { "title": "USP18 negatively regulates NF-kappaB signaling by targeting TAK1 and NEMO for deubiquitination through distinct mechanisms.", "journal": "Scientific reports", "date": "2015", "authors": "Yang Z, Xian H, Hu J, Tian S, Qin Y, Wang RF, Cui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758274", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758274" } ], "reference": [ { "type": "PubMed", "id": "26240016", "url": "https://glygen.org/publication/PubMed/26240016" } ] }, { "title": "Avian Reovirus Protein p17 Functions as a Nucleoporin Tpr Suppressor Leading to Activation of p53, p21 and PTEN and Inactivation of PI3K/AKT/mTOR and ERK Signaling Pathways.", "journal": "PloS one", "date": "2015", "authors": "Huang WR, Chiu HC, Liao TL, Chuang KP, Shih WL, Liu HJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26244501", "url": "https://glygen.org/publication/PubMed/26244501" } ] }, { "title": "hSSB1 (NABP2/ OBFC2B) is required for the repair of 8-oxo-guanine by the hOGG1-mediated base excision repair pathway.", "journal": "Nucleic acids research", "date": "2015", "authors": "Paquet N, Adams MN, Leong V, Ashton NW, Touma C, Gamsjaeger R, Cubeddu L, Beard S, Burgess JT, Bolderson E, O'Byrne KJ, Richard DJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26261212", "url": "https://glygen.org/publication/PubMed/26261212" } ] }, { "title": "Deubiquitylase OTUD3 regulates PTEN stability and suppresses tumorigenesis.", "journal": "Nature cell biology", "date": "2015", "authors": "Yuan L, Lv Y, Li H, Gao H, Song S, Zhang Y, Xing G, Kong X, Wang L, Li Y, Zhou T, Gao D, Xiao ZX, Yin Y, Wei W, He F, Zhang L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689896" } ], "reference": [ { "type": "PubMed", "id": "26280536", "url": "https://glygen.org/publication/PubMed/26280536" } ] }, { "title": "The beneficial effect of Zinc(II) on low-dose chemotherapeutic sensitivity involves p53 activation in wild-type p53-carrying colorectal cancer cells.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2015", "authors": "Garufi A, Ubertini V, Mancini F, D'Orazi V, Baldari S, Moretti F, Bossi G, D'Orazi G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26297485", "url": "https://glygen.org/publication/PubMed/26297485" } ] }, { "title": "RAS-MAPK dependence underlies a rational polytherapy strategy in EML4-ALK-positive lung cancer.", "journal": "Nature medicine", "date": "2015", "authors": "Hrustanovic G, Olivas V, Pazarentzos E, Tulpule A, Asthana S, Blakely CM, Okimoto RA, Lin L, Neel DS, Sabnis A, Flanagan J, Chan E, Varella-Garcia M, Aisner DL, Vaishnavi A, Ou SH, Collisson EA, Ichihara E, Mack PC, Lovly CM, Karachaliou N, Rosell R, Riess JW, Doebele RC, Bivona TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "26301689", "url": "https://glygen.org/publication/PubMed/26301689" } ] }, { "title": "Toxoplasma gondii Rhoptry Protein ROP16 Mediates Partially SH-SY5Y Cells Apoptosis and Cell Cycle Arrest by Directing Ser15/37 Phosphorylation of p53.", "journal": "International journal of biological sciences", "date": "2015", "authors": "Chang S, Shan X, Li X, Fan W, Zhang SQ, Zhang J, Jiang N, Ma D, Mao Z", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26327815", "url": "https://glygen.org/publication/PubMed/26327815" } ] }, { "title": "Subcellular Localization of Proteins Responding to Mitoxantrone-Induced DNA Damage in Leukaemic Cells.", "journal": "Folia biologica", "date": "2015", "authors": "Cmielova J, Lesna M, Rezacova M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26333122", "url": "https://glygen.org/publication/PubMed/26333122" } ] }, { "title": "Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development.", "journal": "Nature communications", "date": "2015-09-11", "authors": "T\u00f6h\u00f6nen Virpi, Katayama Shintaro, Vesterlund Liselotte, Jouhilahti Eeva-Mari, Sheikhi Mona, Madissoon Elo, Filippini-Cattaneo Giuditta, Jaconi Marisa, Johnsson Anna, B\u00fcrglin Thomas R, Linnarsson Sten, Hovatta Outi, Kere Juha", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "26360614", "url": "https://glygen.org/publication/PubMed/26360614" } ] }, { "title": "Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death.", "journal": "Nature", "date": "2015", "authors": "Shi J, Zhao Y, Wang K, Shi X, Wang Y, Huang H, Zhuang Y, Cai T, Wang F, Shao F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971" } ], "reference": [ { "type": "PubMed", "id": "26375003", "url": "https://glygen.org/publication/PubMed/26375003" } ] }, { "title": "Involvement of p53 in insulin-like growth factor binding protein-3 regulation in the breast cancer cell response to DNA damage.", "journal": "Oncotarget", "date": "2015", "authors": "Marzec KA, Lin MZ, Martin JL, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803211" } ], "reference": [ { "type": "PubMed", "id": "26378048", "url": "https://glygen.org/publication/PubMed/26378048" } ] }, { "title": "Leucine-Rich Repeat Kinase 2 (LRRK2) phosphorylates p53 and induces p21(WAF1/CIP1) expression.", "journal": "Molecular brain", "date": "2015", "authors": "Ho DH, Kim H, Kim J, Sim H, Ahn H, Kim J, Seo H, Chung KC, Park BJ, Son I, Seol W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26384650", "url": "https://glygen.org/publication/PubMed/26384650" } ] }, { "title": "Mechanisms involved in p53 downregulation by leptin in trophoblastic cells.", "journal": "Placenta", "date": "2015", "authors": "Toro AR, Perez-Perez A, Corrales Gutierrez I, Sanchez-Margalet V, Varone CL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26386653", "url": "https://glygen.org/publication/PubMed/26386653" } ] }, { "title": "The energy blockers bromopyruvate and lonidamine lead GL15 glioblastoma cells to death by different p53-dependent routes.", "journal": "Scientific reports", "date": "2015", "authors": "Davidescu M, Macchioni L, Scaramozzino G, Cristina Marchetti M, Migliorati G, Vitale R, Corcelli A, Roberti R, Castigli E, Corazzi L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26387611", "url": "https://glygen.org/publication/PubMed/26387611" } ] }, { "title": "Study of antitumor effect of selected vanadium and molybdenum organometallic complexes in human leukemic T-cells.", "journal": "Chemico-biological interactions", "date": "2015", "authors": "Sebestova L, Havelek R, Rezacova M, Honzicek J, Krocova Z, Vinklarek J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26391003", "url": "https://glygen.org/publication/PubMed/26391003" } ] }, { "title": "LRH-1 drives colon cancer cell growth by repressing the expression of the CDKN1A gene in a p53-dependent manner.", "journal": "Nucleic acids research", "date": "2016", "authors": "Kramer HB, Lai CF, Patel H, Periyasamy M, Lin ML, Feller SM, Fuller-Pace FV, Meek DW, Ali S, Buluwela L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26400164", "url": "https://glygen.org/publication/PubMed/26400164" } ] }, { "title": "Long Term Aggresome Accumulation Leads to DNA Damage, p53-dependent Cell Cycle Arrest, and Steric Interference in Mitosis.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Lu M, Boschetti C, Tunnacliffe A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26408200", "url": "https://glygen.org/publication/PubMed/26408200" } ] }, { "title": "SP600125 has a remarkable anticancer potential against undifferentiated thyroid cancer through selective action on ROCK and p53 pathways.", "journal": "Oncotarget", "date": "2015", "authors": "Grassi ES, Vezzoli V, Negri I, Labadi A, Fugazzola L, Vitale G, Persani L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26415230", "url": "https://glygen.org/publication/PubMed/26415230" } ] }, { "title": "TTK activates Akt and promotes proliferation and migration of hepatocellular carcinoma cells.", "journal": "Oncotarget", "date": "2015", "authors": "Liu X, Liao W, Yuan Q, Ou Y, Huang J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26418879", "url": "https://glygen.org/publication/PubMed/26418879" } ] }, { "title": "Targeted therapy for Epstein-Barr virus-associated gastric carcinoma using low-dose gemcitabine-induced lytic activation.", "journal": "Oncotarget", "date": "2015", "authors": "Lee HG, Kim H, Kim EJ, Park PG, Dong SM, Choi TH, Kim H, Chong CR, Liu JO, Chen J, Ambinder RF, Hayward SD, Park JH, Lee JM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26427042", "url": "https://glygen.org/publication/PubMed/26427042" } ] }, { "title": "MELK-T1, a small-molecule inhibitor of protein kinase MELK, decreases DNA-damage tolerance in proliferating cancer cells.", "journal": "Bioscience reports", "date": "2015", "authors": "Beke L, Kig C, Linders JT, Boens S, Boeckx A, van Heerde E, Parade M, De Bondt A, Van den Wyngaert I, Bashir T, Ogata S, Meerpoel L, Van Eynde A, Johnson CN, Beullens M, Brehmer D, Bollen M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26431963", "url": "https://glygen.org/publication/PubMed/26431963" } ] }, { "title": "The Regulatory and Kinase Domains but Not the Interdomain Linker Determine Human Double-stranded RNA-activated Kinase (PKR) Sensitivity to Inhibition by Viral Non-coding RNAs.", "journal": "The Journal of biological chemistry", "date": "2015-11-20", "authors": "Sunita S, Schwartz Samantha L, Conn Graeme L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "26432638", "url": "https://glygen.org/publication/PubMed/26432638" } ] }, { "title": "Core domain mutant Y220C of p53 protein has a key role in copper homeostasis in case of free fatty acids overload.", "journal": "Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine", "date": "2015", "authors": "Arciello M, Longo A, Viscomi C, Capo C, Angeloni A, Rossi L, Balsano C", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26438057", "url": "https://glygen.org/publication/PubMed/26438057" } ] }, { "title": "Benfluron Induces Cell Cycle Arrest, Apoptosis and Activation of p53 Pathway in MOLT-4 Leukemic Cells.", "journal": "Folia biologica", "date": "2015", "authors": "Seifrtova M, Cochlarova T, Havelek R, Rezacova M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26441204", "url": "https://glygen.org/publication/PubMed/26441204" } ] }, { "title": "Activated PKR inhibits pancreatic \u03b2-cell proliferation through sumoylation-dependent stabilization of P53.", "journal": "Molecular immunology", "date": "2015-12", "authors": "Song Ying, Wan XiaoMeng, Gao LiLi, Pan Yi, Xie WeiPing, Wang Hong, Guo Jun", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "26446704", "url": "https://glygen.org/publication/PubMed/26446704" } ] }, { "title": "Mechanisms of dihydrotestosterone action on resveratrol-induced anti-proliferation in breast cancer cells with different ERalpha status.", "journal": "Oncotarget", "date": "2015", "authors": "Chin YT, Yang SH, Chang TC, Changou CA, Lai HY, Fu E, HuangFu WC, Davis PJ, Lin HY, Liu LF", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26456774", "url": "https://glygen.org/publication/PubMed/26456774" } ] }, { "title": "Unconjugated Bilirubin exerts Pro-Apoptotic Effect on Platelets via p38-MAPK activation.", "journal": "Scientific reports", "date": "2015", "authors": "NaveenKumar SK, Thushara RM, Sundaram MS, Hemshekhar M, Paul M, Thirunavukkarasu C, Basappa, Nagaraju G, Raghavan SC, Girish KS, Kemparaju K, Rangappa KS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26459859", "url": "https://glygen.org/publication/PubMed/26459859" } ] }, { "title": "Histone methyltransferase SETDB1 regulates liver cancer cell growth through methylation of p53.", "journal": "Nature communications", "date": "2015", "authors": "Fei Q, Shang K, Zhang J, Chuai S, Kong D, Zhou T, Fu S, Liang Y, Li C, Chen Z, Zhao Y, Yu Z, Huang Z, Hu M, Ying H, Chen Z, Zhang Y, Xing F, Zhu J, Xu H, Zhao K, Lu C, Atadja P, Xiao ZX, Li E, Shou J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26471002", "url": "https://glygen.org/publication/PubMed/26471002" } ] }, { "title": "Akt inhibition improves irinotecan treatment and prevents cell emergence by switching the senescence response to apoptosis.", "journal": "Oncotarget", "date": "2015", "authors": "Vetillard A, Jonchere B, Moreau M, Toutain B, Henry C, Fontanel S, Bernard AC, Campone M, Guette C, Coqueret O", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26485768", "url": "https://glygen.org/publication/PubMed/26485768" } ] }, { "title": "Regulation of PKR by RNA: formation of active and inactive dimers.", "journal": "Biochemistry", "date": "2015-11-10", "authors": "Husain Bushra, Hesler Stephen, Cole James L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "26488609", "url": "https://glygen.org/publication/PubMed/26488609" } ] }, { "title": "Human caspase-4 and caspase-5 regulate the one-step non-canonical inflammasome activation in monocytes.", "journal": "Nature communications", "date": "2015", "authors": "Vigano E, Diamond CE, Spreafico R, Balachander A, Sobota RM, Mortellaro A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971" } ], "reference": [ { "type": "PubMed", "id": "26508369", "url": "https://glygen.org/publication/PubMed/26508369" } ] }, { "title": "The effects of a novel aliphatic-chain hydroxamate derivative WMJ-S-001 in HCT116 colorectal cancer cell death.", "journal": "Scientific reports", "date": "2015", "authors": "Huang YH, Huang SW, Hsu YF, Ou G, Huang WJ, Hsu MJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26510776", "url": "https://glygen.org/publication/PubMed/26510776" } ] }, { "title": "Doxorubicin-induced necrosis is mediated by poly-(ADP-ribose) polymerase 1 (PARP1) but is independent of p53.", "journal": "Scientific reports", "date": "2015", "authors": "Shin HJ, Kwon HK, Lee JH, Gui X, Achek A, Kim JH, Choi S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26522181", "url": "https://glygen.org/publication/PubMed/26522181" } ] }, { "title": "Ell3 stabilizes p53 following CDDP treatment via its effects on ubiquitin-dependent and -independent proteasomal degradation pathways in breast cancer cells.", "journal": "Oncotarget", "date": "2015", "authors": "Ahn HJ, Kim KS, Shin KW, Lim KH, Kim JO, Lee JY, Kim J, Park JH, Yang KM, Baek KH, Ko JJ, Park KS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26540344", "url": "https://glygen.org/publication/PubMed/26540344" } ] }, { "title": "Vorinostat Enhances Cytotoxicity of SN-38 and Temozolomide in Ewing Sarcoma Cells and Activates STAT3/AKT/MAPK Pathways.", "journal": "PloS one", "date": "2015", "authors": "Sampson VB, Vetter NS, Kamara DF, Collier AB, Gresh RC, Kolb EA", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26571493", "url": "https://glygen.org/publication/PubMed/26571493" } ] }, { "title": "p53 Restoration in Induction and Maintenance of Senescence: Differential Effects in Premalignant and Malignant Tumor Cells.", "journal": "Molecular and cellular biology", "date": "2016", "authors": "Harajly M, Zalzali H, Nawaz Z, Ghayad SE, Ghamloush F, Basma H, Zainedin S, Rabeh W, Jabbour M, Tawil A, Badro DA, Evan GI, Saab R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26598601", "url": "https://glygen.org/publication/PubMed/26598601" } ] }, { "title": "Reversible ubiquitination shapes NLRC5 function and modulates NF-kappaB activation switch.", "journal": "The Journal of cell biology", "date": "2015", "authors": "Meng Q, Cai C, Sun T, Wang Q, Xie W, Wang R, Cui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758274", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758274" } ], "reference": [ { "type": "PubMed", "id": "26620909", "url": "https://glygen.org/publication/PubMed/26620909" } ] }, { "title": "Structural studies of UBXN2A and mortalin interaction and the putative role of silenced UBXN2A in preventing response to chemotherapy.", "journal": "Cell Stress Chaperones", "date": "2016", "authors": "Sane S, Abdullah A, Nelson ME, Wang H, Chauhan SC, Newton SS, Rezvani K", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "26634371", "url": "https://glygen.org/publication/PubMed/26634371" } ] }, { "title": "Novel therapeutic interventions for p53-altered tumors through manipulation of its family members, p63 and p73.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2016", "authors": "Venkatanarayan A, Raulji P, Norton W, Flores ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "26652033", "url": "https://glygen.org/publication/PubMed/26652033" } ] }, { "title": "UBE4B targets phosphorylated p53 at serines 15 and 392 for degradation.", "journal": "Oncotarget", "date": "2016", "authors": "Du C, Wu H, Leng RP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26673821", "url": "https://glygen.org/publication/PubMed/26673821" } ] }, { "title": "The Six1 oncoprotein downregulates p53 via concomitant regulation of RPL26 and microRNA-27a-3p.", "journal": "Nature communications", "date": "2015", "authors": "Towers CG, Guarnieri AL, Micalizzi DS, Harrell JC, Gillen AE, Kim J, Wang CA, Oliphant MUJ, Drasin DJ, Guney MA, Kabos P, Sartorius CA, Tan AC, Perou CM, Espinosa JM, Ford HL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26687066", "url": "https://glygen.org/publication/PubMed/26687066" } ] }, { "title": "Selective dysfunction of p53 for mitochondrial biogenesis induces cellular proliferation in bronchial smooth muscle from asthmatic patients.", "journal": "The Journal of allergy and clinical immunology", "date": "2016-06", "authors": "Trian Thomas, Allard Benoit, Ozier Annaig, Maurat Elise, Dupin Isabelle, Thumerel Matthieu, Ousova Olga, Gillibert-Duplantier Jennifer, Le Morvan Val\u00e9rie, Begueret Hugues, Girodet Pierre-Olivier, Marthan Roger, Berger Patrick", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26688517", "url": "https://glygen.org/publication/PubMed/26688517" } ] }, { "title": "Kaempferol Activates G(2)-Checkpoint of the Cell Cycle Resulting in G(2)-Arrest and Mitochondria-Dependent Apoptosis in Human Acute Leukemia Jurkat T Cells.", "journal": "Journal of microbiology and biotechnology", "date": "2016", "authors": "Kim KY, Jang WY, Lee JY, Jun do Y, Ko JY, Yun YH, Kim YH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26699757", "url": "https://glygen.org/publication/PubMed/26699757" } ] }, { "title": "Hot Spot Mutation in TP53 (R248Q) Causes Oncogenic Gain-of-Function Phenotypes in a Breast Cancer Cell Line Derived from an African American patient.", "journal": "International journal of environmental research and public health", "date": "2015", "authors": "Shtraizent N, Matsui H, Polotskaia A, Bargonetti J", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "26703669", "url": "https://glygen.org/publication/PubMed/26703669" } ] }, { "title": "Mus81 knockdown improves chemosensitivity of hepatocellular carcinoma cells by inducing S-phase arrest and promoting apoptosis through CHK1 pathway.", "journal": "Cancer medicine", "date": "2016", "authors": "Wu F, Chen WJ, Yan L, Tan GQ, Li WT, Zhu XJ, Ge XC, Liu JW, Wang BL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26714930", "url": "https://glygen.org/publication/PubMed/26714930" } ] }, { "title": "Proteome profiling of cadmium-induced apoptosis by antibody array analyses in human bronchial epithelial cells.", "journal": "Oncotarget", "date": "2016", "authors": "Xu YM, Wu DD, Zheng W, Yu FY, Yang F, Yao Y, Zhou Y, Ching YP, Lau AT", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26716417", "url": "https://glygen.org/publication/PubMed/26716417" } ] }, { "title": "Essential role of protein kinase R antagonism by TRS1 in human cytomegalovirus replication.", "journal": "Virology", "date": "2016-02", "authors": "Braggin Jacquelyn E, Child Stephanie J, Geballe Adam P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "26716879", "url": "https://glygen.org/publication/PubMed/26716879" } ] }, { "title": "Use of a novel cytotoxic HEXIM1 peptide in the directed breast cancer therapy.", "journal": "Oncotarget", "date": "2016", "authors": "Neo SH, Lew QJ, Koh SM, Zheng L, Bi X, Chao SH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26734838", "url": "https://glygen.org/publication/PubMed/26734838" } ] }, { "title": "Wuho Is a New Member in Maintaining Genome Stability through its Interaction with Flap Endonuclease 1.", "journal": "PLoS biology", "date": "2016", "authors": "Cheng IC, Chen BC, Shuai HH, Chien FC, Chen P, Hsieh TS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26751069", "url": "https://glygen.org/publication/PubMed/26751069" } ] }, { "title": "Editing of Cellular Self-RNAs by Adenosine Deaminase ADAR1 Suppresses Innate Immune Stress Responses.", "journal": "The Journal of biological chemistry", "date": "2016-03-18", "authors": "George Cyril X, Ramaswami Gokul, Li Jin Billy, Samuel Charles E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "26817845", "url": "https://glygen.org/publication/PubMed/26817845" } ] }, { "title": "Squalene Inhibits ATM-Dependent Signaling in gammaIR-Induced DNA Damage Response through Induction of Wip1 Phosphatase.", "journal": "PloS one", "date": "2016", "authors": "Tatewaki N, Konishi T, Nakajima Y, Nishida M, Saito M, Eitsuka T, Sakamaki T, Ikekawa N, Nishida H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26824362", "url": "https://glygen.org/publication/PubMed/26824362" } ] }, { "title": "Chemical Inhibition of Wild-Type p53-Induced Phosphatase 1 (WIP1/PPM1D) by GSK2830371 Potentiates the Sensitivity to MDM2 Inhibitors in a p53-Dependent Manner.", "journal": "Molecular cancer therapeutics", "date": "2016", "authors": "Esfandiari A, Hawthorne TA, Nakjang S, Lunec J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26832796", "url": "https://glygen.org/publication/PubMed/26832796" } ] }, { "title": "Stabilization of p21 by mTORC1/4E-BP1 predicts clinical outcome of head and neck cancers.", "journal": "Nature communications", "date": "2016", "authors": "Llanos S, Garcia-Pedrero JM, Morgado-Palacin L, Rodrigo JP, Serrano M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26832959", "url": "https://glygen.org/publication/PubMed/26832959" } ] }, { "title": "Properties and catalytic activities of MICAL1, the flavoenzyme involved in cytoskeleton dynamics, and modulation by its CH, LIM and C-terminal domains.", "journal": "Archives of biochemistry and biophysics", "date": "2016", "authors": "Vitali T, Maffioli E, Tedeschi G, Vanoni MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "26845023", "url": "https://glygen.org/publication/PubMed/26845023" } ] }, { "title": "SCF(Fbxo22)-KDM4A targets methylated p53 for degradation and regulates senescence.", "journal": "Nature communications", "date": "2016", "authors": "Johmura Y, Sun J, Kitagawa K, Nakanishi K, Kuno T, Naiki-Ito A, Sawada Y, Miyamoto T, Okabe A, Aburatani H, Li S, Miyoshi I, Takahashi S, Kitagawa M, Nakanishi M", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "26868148", "url": "https://glygen.org/publication/PubMed/26868148" } ] }, { "title": "Heterozygous p53(V172F) mutation in cisplatin-resistant human tumor cells promotes MDM4 recruitment and decreases stability and transactivity of p53.", "journal": "Oncogene", "date": "2016-09-08", "authors": "Xie X, Lozano G, Siddik Z H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26876197", "url": "https://glygen.org/publication/PubMed/26876197" } ] }, { "title": "Inhibition of WIP1 phosphatase sensitizes breast cancer cells to genotoxic stress and to MDM2 antagonist nutlin-3.", "journal": "Oncotarget", "date": "2016", "authors": "Pechackova S, Burdova K, Benada J, Kleiblova P, Jenikova G, Macurek L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26883108", "url": "https://glygen.org/publication/PubMed/26883108" } ] }, { "title": "Mutation R273H confers p53 a stimulating effect on the IGF-1R-AKT pathway via miR-30a suppression in breast cancer.", "journal": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie", "date": "2016", "authors": "Guo F, Chen H, Chang J, Zhang L", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "26898459", "url": "https://glygen.org/publication/PubMed/26898459" } ] }, { "title": "Aryl hydrocarbon receptor nuclear translocator (ARNT) isoforms control lymphoid cancer cell proliferation through differentially regulating tumor suppressor p53 activity.", "journal": "Oncotarget", "date": "2016", "authors": "Gardella KA, Muro I, Fang G, Sarkar K, Mendez O, Wright CW", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26909609", "url": "https://glygen.org/publication/PubMed/26909609" } ] }, { "title": "MAF1 suppresses AKT-mTOR signaling and liver cancer through activation of PTEN transcription.", "journal": "Hepatology (Baltimore, Md.)", "date": "2016", "authors": "Li Y, Tsang CK, Wang S, Li XX, Yang Y, Fu L, Huang W, Li M, Wang HY, Zheng XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "26910647", "url": "https://glygen.org/publication/PubMed/26910647" } ] }, { "title": "Feedbacks, Bifurcations, and Cell Fate Decision-Making in the p53 System.", "journal": "PLoS computational biology", "date": "2016", "authors": "Hat B, Kochanczyk M, Bogdal MN, Lipniacki T", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26928575", "url": "https://glygen.org/publication/PubMed/26928575" } ] }, { "title": "Targeting MDM2 for Treatment of Adenoid Cystic Carcinoma.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2016", "authors": "Warner KA, Nor F, Acasigua GA, Martins MD, Zhang Z, McLean SA, Spector ME, Chepeha DB, Helman J, Wick MJ, Moskaluk CA, Castilho RM, Pearson AT, Wang S, Nor JE", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26936915", "url": "https://glygen.org/publication/PubMed/26936915" } ] }, { "title": "DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.", "journal": "Nucleic acids research", "date": "2016", "authors": "Choi SH, Gearhart MD, Cui Z, Bosnakovski D, Kim M, Schennum N, Kyba M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "26951377", "url": "https://glygen.org/publication/PubMed/26951377" } ] }, { "title": "Cancer-associated S100P protein binds and inactivates p53, permits therapy-induced senescence and supports chemoresistance.", "journal": "Oncotarget", "date": "2016", "authors": "Gibadulinova A, Pastorek M, Filipcik P, Radvak P, Csaderova L, Vojtesek B, Pastorekova S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26967060", "url": "https://glygen.org/publication/PubMed/26967060" } ] }, { "title": "PTEN opposes negative selection and enables oncogenic transformation of pre-B cells.", "journal": "Nature medicine", "date": "2016", "authors": "Shojaee S, Chan LN, Buchner M, Cazzaniga V, Cosgun KN, Geng H, Qiu YH, von Minden MD, Ernst T, Hochhaus A, Cazzaniga G, Melnick A, Kornblau SM, Graeber TG, Wu H, Jumaa H, Muschen M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26974310", "url": "https://glygen.org/publication/PubMed/26974310" } ] }, { "title": "Protein Kinase Ciota Drives a NOTCH3-dependent Stem-like Phenotype in Mutant KRAS Lung Adenocarcinoma.", "journal": "Cancer cell", "date": "2016", "authors": "Ali SA, Justilien V, Jamieson L, Murray NR, Fields AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912408" } ], "reference": [ { "type": "PubMed", "id": "26977885", "url": "https://glygen.org/publication/PubMed/26977885" } ] }, { "title": "Genomic Instability Associated with p53 Knockdown in the Generation of Huntington's Disease Human Induced Pluripotent Stem Cells.", "journal": "PloS one", "date": "2016", "authors": "Tidball AM, Neely MD, Chamberlin R, Aboud AA, Kumar KK, Han B, Bryan MR, Aschner M, Ess KC, Bowman AB", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26982737", "url": "https://glygen.org/publication/PubMed/26982737" } ] }, { "title": "Downregulation of LRRC8A protects human ovarian and alveolar carcinoma cells against Cisplatin-induced expression of p53, MDM2, p21Waf1/Cip1, and Caspase-9/-3 activation.", "journal": "American journal of physiology. Cell physiology", "date": "2016", "authors": "Sorensen BH, Nielsen D, Thorsteinsdottir UA, Hoffmann EK, Lambert IH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26984736", "url": "https://glygen.org/publication/PubMed/26984736" } ] }, { "title": "MAPK15 upregulation promotes cell proliferation and prevents DNA damage in male germ cell tumors.", "journal": "Oncotarget", "date": "2016", "authors": "Rossi M, Colecchia D, Ilardi G, Acunzo M, Nigita G, Sasdelli F, Celetti A, Strambi A, Staibano S, Croce CM, Chiariello M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "26988910", "url": "https://glygen.org/publication/PubMed/26988910" } ] }, { "title": "High-sensitivity HLA class I peptidome analysis enables a precise definition of peptide motifs and the identification of peptides from cell lines and patients' sera.", "journal": "Proteomics", "date": "2016-05", "authors": "Ritz Danilo, Gloger Andreas, Weide Benjamin, Garbe Claus, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" }, { "database": "IEDB", "id": "22154", "url": "https://www.iedb.org/epitope/22154" } ], "reference": [ { "type": "PubMed", "id": "26992070", "url": "https://glygen.org/publication/PubMed/26992070" } ] }, { "title": "Human Pluripotent Stem Cells and Derived Neuroprogenitors Display Differential Degrees of Susceptibility to BH3 Mimetics ABT-263, WEHI-539 and ABT-199.", "journal": "PloS one", "date": "2016", "authors": "Garcia CP, Videla Richardson GA, Dimopoulos NA, Fernandez Espinosa DD, Miriuka SG, Sevlever GE, Romorini L, Scassa ME", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27030982", "url": "https://glygen.org/publication/PubMed/27030982" } ] }, { "title": "Renal cell carcinoma escapes death by p53 depletion through transglutaminase 2-chaperoned autophagy.", "journal": "Cell death & disease", "date": "2016", "authors": "Kang JH, Lee JS, Hong D, Lee SH, Kim N, Lee WK, Sung TW, Gong YD, Kim SY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27031960", "url": "https://glygen.org/publication/PubMed/27031960" } ] }, { "title": "The cytoskeleton adaptor protein ankyrin-1 is upregulated by p53 following DNA damage and alters cell migration.", "journal": "Cell death & disease", "date": "2016", "authors": "Hall AE, Lu WT, Godfrey JD, Antonov AV, Paicu C, Moxon S, Dalmay T, Wilczynska A, Muller PA, Bushell M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27054339", "url": "https://glygen.org/publication/PubMed/27054339" } ] }, { "title": "Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos.", "journal": "Cell", "date": "2016-05-05", "authors": "Petropoulos Sophie, Edsg\u00e4rd Daniel, Reinius Bj\u00f6rn, Deng Qiaolin, Panula Sarita Pauliina, Codeluppi Simone, Plaza Reyes Alvaro, Linnarsson Sten, Sandberg Rickard, Lanner Fredrik", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "27062923", "url": "https://glygen.org/publication/PubMed/27062923" } ] }, { "title": "Efficient Activation of Apoptotic Signaling during Mitotic Arrest with AK301.", "journal": "PloS one", "date": "2016", "authors": "Chopra A, Bond MJ, Bleiler M, Yeagley M, Wright D, Giardina C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27097159", "url": "https://glygen.org/publication/PubMed/27097159" } ] }, { "title": "The Natural Polyphenol Epigallocatechin Gallate Protects Intervertebral Disc Cells from Oxidative Stress.", "journal": "Oxidative medicine and cellular longevity", "date": "2016", "authors": "Krupkova O, Handa J, Hlavna M, Klasen J, Ospelt C, Ferguson SJ, Wuertz-Kozak K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27119009", "url": "https://glygen.org/publication/PubMed/27119009" } ] }, { "title": "Novel method for the high-throughput production of phosphorylation site-specific monoclonal antibodies.", "journal": "Scientific reports", "date": "2016", "authors": "Kurosawa N, Wakata Y, Inobe T, Kitamura H, Yoshioka M, Matsuzawa S, Kishi Y, Isobe M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27125496", "url": "https://glygen.org/publication/PubMed/27125496" } ] }, { "title": "UV-A Irradiation Activates Nrf2-Regulated Antioxidant Defense and Induces p53/Caspase3-Dependent Apoptosis in Corneal Endothelial Cells.", "journal": "Investigative ophthalmology & visual science", "date": "2016", "authors": "Liu C, Vojnovic D, Kochevar IE, Jurkunas UV", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27127932", "url": "https://glygen.org/publication/PubMed/27127932" } ] }, { "title": "JNK2 downregulation promotes tumorigenesis and chemoresistance by decreasing p53 stability in bladder cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Pan CW, Liu H, Zhao Y, Qian C, Wang L, Qi J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27147566", "url": "https://glygen.org/publication/PubMed/27147566" } ] }, { "title": "Double mutant P53 (N340Q/L344R) promotes hepatocarcinogenesis through upregulation of Pim1 mediated by PKM2 and LncRNA CUDR.", "journal": "Oncotarget", "date": "2016", "authors": "Wu M, An J, Zheng Q, Xin X, Lin Z, Li X, Li H, Lu D", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "27167190", "url": "https://glygen.org/publication/PubMed/27167190" } ] }, { "title": "Diosmetin induces apoptosis by upregulating p53 via the TGF-\u03b2 signal pathway in HepG2 hepatoma cells.", "journal": "Molecular medicine reports", "date": "2016-07", "authors": "Liu Bin, Shi Yufeng, Peng Wending, Zhang Qingyu, Liu Jie, Chen Nianping, Zhu Runzhi", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27176768", "url": "https://glygen.org/publication/PubMed/27176768" } ] }, { "title": "Cooperation of Nutlin-3a and a Wip1 inhibitor to induce p53 activity.", "journal": "Oncotarget", "date": "2016", "authors": "Sriraman A, Radovanovic M, Wienken M, Najafova Z, Li Y, Dobbelstein M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27183917", "url": "https://glygen.org/publication/PubMed/27183917" } ] }, { "title": "Developing a Gene Biomarker at the Tipping Point of Adaptive and Adverse Responses in Human Bronchial Epithelial Cells.", "journal": "PloS one", "date": "2016", "authors": "Currier JM, Cheng WY, Menendez D, Conolly R, Chorley BN", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27195669", "url": "https://glygen.org/publication/PubMed/27195669" } ] }, { "title": "Activation of PKR by short stem-loop RNAs containing single-stranded arms.", "journal": "RNA (New York, N.Y.)", "date": "2016-07", "authors": "Mayo Christopher B, Wong C Jason, Lopez Prisma E, Lary Jeffrey W, Cole James L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "27208315", "url": "https://glygen.org/publication/PubMed/27208315" } ] }, { "title": "Inducing mitophagy in diabetic platelets protects against severe oxidative stress.", "journal": "EMBO molecular medicine", "date": "2016-07", "authors": "Lee Seung Hee, Du Jing, Stitham Jeremiah, Atteya Gourg, Lee Suho, Xiang Yaozu, Wang Dandan, Jin Yu, Leslie Kristen L, Spollett Geralyn, Srivastava Anup, Mannam Praveen, Ostriker Allison, Martin Kathleen A, Tang Wai Ho, Hwa John", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27221050", "url": "https://glygen.org/publication/PubMed/27221050" } ] }, { "title": "Targeting DNA repair with aphidicolin sensitizes primary chronic lymphocytic leukemia cells to purine analogs.", "journal": "Oncotarget", "date": "2016", "authors": "Starczewska E, Beyaert M, Michaux L, Vekemans MC, Saussoy P, Bol V, Arana Echarri A, Smal C, Van Den Neste E, Bontemps F", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27223263", "url": "https://glygen.org/publication/PubMed/27223263" } ] }, { "title": "Leptin reduces apoptosis triggered by high temperature in human placental villous explants: The role of the p53 pathway.", "journal": "Placenta", "date": "2016", "authors": "Perez-Perez A, Toro AR, Vilarino-Garcia T, Guadix P, Maymo JL, Duenas JL, Varone CL, Sanchez-Margalet V", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27238720", "url": "https://glygen.org/publication/PubMed/27238720" } ] }, { "title": "Comprehensive Genomic Profiling Identifies a Subset of Crizotinib-Responsive ALK-Rearranged Non-Small Cell Lung Cancer Not Detected by Fluorescence In Situ Hybridization.", "journal": "The oncologist", "date": "2016", "authors": "Ali SM, Hensing T, Schrock AB, Allen J, Sanford E, Gowen K, Kulkarni A, He J, Suh JH, Lipson D, Elvin JA, Yelensky R, Chalmers Z, Chmielecki J, Peled N, Klempner SJ, Firozvi K, Frampton GM, Molina JR, Menon S, Brahmer JR, MacMahon H, Nowak J, Ou SH, Zauderer M, Ladanyi M, Zakowski M, Fischbach N, Ross JS, Stephens PJ, Miller VA, Wakelee H, Ganesan S, Salgia R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "27245569", "url": "https://glygen.org/publication/PubMed/27245569" } ] }, { "title": "Discriminating Self and Non-Self by RNA: Roles for RNA Structure, Misfolding, and Modification in Regulating the Innate Immune Sensor PKR.", "journal": "Accounts of chemical research", "date": "2016-06-21", "authors": "Hull Chelsea M, Bevilacqua Philip C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "27269119", "url": "https://glygen.org/publication/PubMed/27269119" } ] }, { "title": "Modulation of oxidative stress and subsequent induction of apoptosis and endoplasmic reticulum stress allows citral to decrease cancer cell proliferation.", "journal": "Scientific reports", "date": "2016", "authors": "Kapur A, Felder M, Fass L, Kaur J, Czarnecki A, Rathi K, Zeng S, Osowski KK, Howell C, Xiong MP, Whelan RJ, Patankar MS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27270209", "url": "https://glygen.org/publication/PubMed/27270209" } ] }, { "title": "Up-regulation of Siah1 by ethanol triggers apoptosis in neural crest cells through p38 MAPK-mediated activation of p53 signaling pathway.", "journal": "Archives of toxicology", "date": "2017", "authors": "Yuan F, Chen X, Liu J, Feng W, Wu X, Chen SY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27270636", "url": "https://glygen.org/publication/PubMed/27270636" } ] }, { "title": "Pore-forming activity and structural autoinhibition of the gasdermin family.", "journal": "Nature", "date": "2016", "authors": "Ding J, Wang K, Liu W, She Y, Sun Q, Shi J, Sun H, Wang DC, Shao F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971" } ], "reference": [ { "type": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" } ] }, { "title": "Synergy between histone deacetylase inhibitors and DNA-damaging agents is mediated by histone deacetylase 2 in colorectal cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Alzoubi S, Brody L, Rahman S, Mahul-Mellier AL, Mercado N, Ito K, El-Bahrawy M, Silver A, Boobis A, Bell JD, Hajji N", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27283986", "url": "https://glygen.org/publication/PubMed/27283986" } ] }, { "title": "MicroRNA-17-5p regulated apoptosis-related protein expression and radiosensitivity in oral squamous cell carcinoma caused by betel nut chewing.", "journal": "Oncotarget", "date": "2016", "authors": "Wu SY, Wu AT, Liu SH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27285985", "url": "https://glygen.org/publication/PubMed/27285985" } ] }, { "title": "The Effect of MCP-1/CCR2 on the Proliferation and Senescence of Epidermal Constituent Cells in Solar Lentigo.", "journal": "International journal of molecular sciences", "date": "2016", "authors": "Lee WJ, Jo SY, Lee MH, Won CH, Lee MW, Choi JH, Chang SE", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27314341", "url": "https://glygen.org/publication/PubMed/27314341" } ] }, { "title": "LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.", "journal": "Oncotarget", "date": "2016", "authors": "Cesnekova J, Spacilova J, Hansikova H, Houstek J, Zeman J, Stiburek L", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "27323408", "url": "https://glygen.org/publication/PubMed/27323408" } ] }, { "title": "TP53 mutant MDM2-amplified cell lines selected for resistance to MDM2-p53 binding antagonists retain sensitivity to ionizing radiation.", "journal": "Oncotarget", "date": "2016", "authors": "Drummond CJ, Esfandiari A, Liu J, Lu X, Hutton C, Jackson J, Bennaceur K, Xu Q, Makimanejavali AR, Del Bello F, Piergentili A, Newell DR, Hardcastle IR, Griffin RJ, Lunec J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27323823", "url": "https://glygen.org/publication/PubMed/27323823" } ] }, { "title": "Extremely stringent activation of p16INK4a prevents immortalization of uterine cervical epithelial cells without human papillomavirus oncogene expression.", "journal": "Oncotarget", "date": "2016", "authors": "Hang S, Tiwari AF, Ngan HY, Yip YL, Cheung AL, Tsao SW, Deng W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27344169", "url": "https://glygen.org/publication/PubMed/27344169" } ] }, { "title": "Histone modifications and p53 binding poise the p21 promoter for activation in human embryonic stem cells.", "journal": "Scientific reports", "date": "2016", "authors": "Itahana Y, Zhang J, Goke J, Vardy LA, Han R, Iwamoto K, Cukuroglu E, Robson P, Pouladi MA, Colman A, Itahana K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27346849", "url": "https://glygen.org/publication/PubMed/27346849" } ] }, { "title": "Inflammasome-activated gasdermin D causes pyroptosis by forming membrane pores.", "journal": "Nature", "date": "2016", "authors": "Liu X, Zhang Z, Ruan J, Pan Y, Magupalli VG, Wu H, Lieberman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971" } ], "reference": [ { "type": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] }, { "title": "Inhibition of RNA polymerase I transcription initiation by CX-5461 activates non-canonical ATM/ATR signaling.", "journal": "Oncotarget", "date": "2016", "authors": "Quin J, Chan KT, Devlin JR, Cameron DP, Diesch J, Cullinane C, Ahern J, Khot A, Hein N, George AJ, Hannan KM, Poortinga G, Sheppard KE, Khanna KK, Johnstone RW, Drygin D, McArthur GA, Pearson RB, Sanij E, Hannan RD", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27391441", "url": "https://glygen.org/publication/PubMed/27391441" } ] }, { "title": "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient.", "journal": "Journal of hepatology", "date": "2016-10", "authors": "L\u00f6ffler Markus W, Chandran P Anoop, Laske Karoline, Schroeder Christopher, Bonzheim Irina, Walzer Mathias, Hilke Franz J, Trautwein Nico, Kowalewski Daniel J, Schuster Heiko, G\u00fcnder Marc, Carcamo Ya\u00f1ez Viviana A, Mohr Christopher, Sturm Marc, Nguyen Huu-Phuc, Riess Olaf, Bauer Peter, Nahnsen Sven, Nadalin Silvio, Zieker Derek, Glatzle J\u00f6rg, Thiel Karolin, Schneiderhan-Marra Nicole, Clasen Stephan, B\u00f6sm\u00fcller Hans, Fend Falko, Kohlbacher Oliver, Gouttefangeas C\u00e9cile, Stevanovi\u0107 Stefan, K\u00f6nigsrainer Alfred, Rammensee Hans-Georg", "evidence": [ { "database": "IEDB", "id": "440098", "url": "https://www.iedb.org/epitope/440098" } ], "reference": [ { "type": "PubMed", "id": "27397612", "url": "https://glygen.org/publication/PubMed/27397612" } ] }, { "title": "Lebein, a Snake Venom Disintegrin, Induces Apoptosis in Human Melanoma Cells.", "journal": "Toxins", "date": "2016", "authors": "Hammouda MB, Montenegro MF, Sanchez-Del-Campo L, Zakraoui O, Aloui Z, Riahi-Chebbi I, Karoui H, Rodriguez-Lopez JN, Essafi-Benkhadir K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27399772", "url": "https://glygen.org/publication/PubMed/27399772" } ] }, { "title": "A novel alkaloid, evodiamine causes nuclear localization of cytochrome-c and induces apoptosis independent of p53 in human lung cancer cells.", "journal": "Biochemical and biophysical research communications", "date": "2016", "authors": "Mohan V, Agarwal R, Singh RP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27402273", "url": "https://glygen.org/publication/PubMed/27402273" } ] }, { "title": "Changes in O-Linked N-Acetylglucosamine (O-GlcNAc) Homeostasis Activate the p53 Pathway in Ovarian Cancer Cells.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "de Queiroz RM, Madan R, Chien J, Dias WB, Slawson C", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" } ], "reference": [ { "type": "PubMed", "id": "27402830", "url": "https://glygen.org/publication/PubMed/27402830" } ] }, { "title": "GSDMD membrane pore formation constitutes the mechanism of pyroptotic cell death.", "journal": "The EMBO journal", "date": "2016", "authors": "Sborgi L, Ruhl S, Mulvihill E, Pipercevic J, Heilig R, Stahlberg H, Farady CJ, Muller DJ, Broz P, Hiller S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971" } ], "reference": [ { "type": "PubMed", "id": "27418190", "url": "https://glygen.org/publication/PubMed/27418190" } ] }, { "title": "NF90 is a novel influenza A virus NS1-interacting protein that antagonizes the inhibitory role of NS1 on PKR phosphorylation.", "journal": "FEBS letters", "date": "2016-08", "authors": "Li Ting, Li Xi, Zhu WenFei, Wang HuiYu, Mei Lin, Wu ShaoQiang, Lin XiangMei, Han XueQing", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "27423063", "url": "https://glygen.org/publication/PubMed/27423063" } ] }, { "title": "LRRC14 attenuates Toll-like receptor-mediated NF-kappaB signaling through disruption of IKK complex.", "journal": "Experimental cell research", "date": "2016", "authors": "Wu C, Yang Y, Ou J, Zhu L, Zhao W, Cui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758274", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758274" } ], "reference": [ { "type": "PubMed", "id": "27426725", "url": "https://glygen.org/publication/PubMed/27426725" } ] }, { "title": "Synergistic functions of E2F7 and E2F8 are critical to suppress stress-induced skin cancer.", "journal": "Oncogene", "date": "2017", "authors": "Thurlings I, Martinez-Lopez LM, Westendorp B, Zijp M, Kuiper R, Tooten P, Kent LN, Leone G, Vos HJ, Burgering B, de Bruin A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804116", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804116" } ], "reference": [ { "type": "PubMed", "id": "27452520", "url": "https://glygen.org/publication/PubMed/27452520" } ] }, { "title": "SMG7 is a critical regulator of p53 stability and function in DNA damage stress response.", "journal": "Cell discovery", "date": "2016", "authors": "Luo H, Cowen L, Yu G, Jiang W, Tang Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27462439", "url": "https://glygen.org/publication/PubMed/27462439" } ] }, { "title": "p53 elevation in human cells halt SV40 infection by inhibiting T-ag expression.", "journal": "Oncotarget", "date": "2016", "authors": "Drayman N, Ben-Nun-Shaul O, Butin-Israeli V, Srivastava R, Rubinstein AM, Mock CS, Elyada E, Ben-Neriah Y, Lahav G, Oppenheim A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27462916", "url": "https://glygen.org/publication/PubMed/27462916" } ] }, { "title": "PAK4 Phosphorylates p53 at Serine 215 to Promote Liver Cancer Metastasis.", "journal": "Cancer research", "date": "2016", "authors": "Xu HT, Lai WL, Liu HF, Wong LL, Ng IO, Ching YP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27496712", "url": "https://glygen.org/publication/PubMed/27496712" } ] }, { "title": "Diffusible Factors Secreted by Glioblastoma and Medulloblastoma Cells Induce Oxidative Stress in Bystander Neural Stem Progenitors.", "journal": "ASN neuro", "date": "2016", "authors": "Sharma N, Colangelo NW, de Toledo SM, Azzam EI", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27511909", "url": "https://glygen.org/publication/PubMed/27511909" } ] }, { "title": "Inhibition of glucosylceramide synthase eliminates the oncogenic function of p53 R273H mutant in the epithelial-mesenchymal transition and induced pluripotency of colon cancer cells.", "journal": "Oncotarget", "date": "2016", "authors": "Hosain SB, Khiste SK, Uddin MB, Vorubindi V, Ingram C, Zhang S, Hill RA, Gu X, Liu YY", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27517620", "url": "https://glygen.org/publication/PubMed/27517620" } ] }, { "title": "Establishment and Characterization of a Novel Cell Line, ASAN-PaCa, Derived From Human Adenocarcinoma Arising in Intraductal Papillary Mucinous Neoplasm of the Pancreas.", "journal": "Pancreas", "date": "2016", "authors": "Heller A, Angelova AL, Bauer S, Grekova SP, Aprahamian M, Rommelaere J, Volkmar M, Janssen JW, Bauer N, Herr I, Giese T, Gaida MM, Bergmann F, Hackert T, Fritz S, Giese NA", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "27518460", "url": "https://glygen.org/publication/PubMed/27518460" } ] }, { "title": "A steroid like phytochemical Antcin M is an anti-aging reagent that eliminates hyperglycemia-accelerated premature senescence in dermal fibroblasts by direct activation of Nrf2 and SIRT-1.", "journal": "Oncotarget", "date": "2016", "authors": "Senthil KK, Gokila VM, Mau JL, Lin CC, Chu FH, Wei CC, Liao VH, Wang SY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27542238", "url": "https://glygen.org/publication/PubMed/27542238" } ] }, { "title": "Identification of cellular senescence-specific genes by comparative transcriptomics.", "journal": "Scientific reports", "date": "2016", "authors": "Nagano T, Nakano M, Nakashima A, Onishi K, Yamao S, Enari M, Kikkawa U, Kamada S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27545311", "url": "https://glygen.org/publication/PubMed/27545311" } ] }, { "title": "Silencing of RUNX2 enhances gemcitabine sensitivity of p53-deficient human pancreatic cancer AsPC-1 cells through the stimulation of TAp63-mediated cell death.", "journal": "Cell death discovery", "date": "2015", "authors": "Sugimoto H, Nakamura M, Yoda H, Hiraoka K, Shinohara K, Sang M, Fujiwara K, Shimozato O, Nagase H, Ozaki T", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27551445", "url": "https://glygen.org/publication/PubMed/27551445" } ] }, { "title": "Low-dose Actinomycin-D treatment re-establishes the tumoursuppressive function of P53 in RELA-positive ependymoma.", "journal": "Oncotarget", "date": "2016", "authors": "Tzaridis T, Milde T, Pajtler KW, Bender S, Jones DT, Muller S, Wittmann A, Schlotter M, Kulozik AE, Lichter P, Peter Collins V, Witt O, Kool M, Korshunov A, Pfister SM, Witt H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27556362", "url": "https://glygen.org/publication/PubMed/27556362" } ] }, { "title": "ROCK inhibitor reduces Myc-induced apoptosis and mediates immortalization of human keratinocytes.", "journal": "Oncotarget", "date": "2016", "authors": "Dakic A, DiVito K, Fang S, Suprynowicz F, Gaur A, Li X, Palechor-Ceron N, Simic V, Choudhury S, Yu S, Simbulan-Rosenthal CM, Rosenthal D, Schlegel R, Liu X", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27556514", "url": "https://glygen.org/publication/PubMed/27556514" } 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"DNA-binding protects p53 from interactions with cofactors involved in transcription-independent functions.", "journal": "Nucleic acids research", "date": "2016", "authors": "Lambrughi M, De Gioia L, Gervasio FL, Lindorff-Larsen K, Nussinov R, Urani C, Bruschi M, Papaleo E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27604871", "url": "https://glygen.org/publication/PubMed/27604871" } ] }, { "title": "p53 controls CDC7 levels to reinforce G1 cell cycle arrest upon genotoxic stress.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2016", "authors": "Tudzarova S, Mulholland P, Dey A, Stoeber K, Okorokov AL, Williams GH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27611229", "url": "https://glygen.org/publication/PubMed/27611229" } ] }, { "title": "The pathophysiological significance of PPM1D and therapeutic targeting of PPM1D-mediated signaling by GSK2830371 in mantle cell lymphoma.", "journal": "Oncotarget", "date": "2016", "authors": "Kojima K, Maeda A, Yoshimura M, Nishida Y, Kimura S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27626308", "url": "https://glygen.org/publication/PubMed/27626308" } ] }, { "title": "Familial Alzheimer's Disease Lymphocytes Respond Differently Than Sporadic Cells to Oxidative Stress: Upregulated p53-p21 Signaling Linked with Presenilin 1 Mutants.", "journal": "Molecular neurobiology", "date": "2017", "authors": "Wojsiat J, Laskowska-Kaszub K, Alquezar C, Bialopiotrowicz E, Esteras N, Zdioruk M, Martin-Requero A, Wojda U", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27644130", "url": "https://glygen.org/publication/PubMed/27644130" } ] }, { "title": "Protective Effect of Cyanidin-3-O-Glucoside against Ultraviolet B Radiation-Induced Cell Damage in Human HaCaT Keratinocytes.", "journal": "Frontiers in pharmacology", "date": "2016", "authors": "Hu Y, Ma Y, Wu S, Chen T, He Y, Sun J, Jiao R, Jiang X, Huang Y, Deng L, Bai W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27656146", "url": "https://glygen.org/publication/PubMed/27656146" } ] }, { "title": "Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3.", "journal": "PLoS biology", "date": "2016", "authors": "Guan Y, Huang D, Chen F, Gao C, Tao T, Shi H, Zhao S, Liao Z, Lo LJ, Wang Y, Chen J, Peng J", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "27657329", "url": "https://glygen.org/publication/PubMed/27657329" } ] }, { "title": "MDM2 is a potential therapeutic target and prognostic factor for ovarian clear cell carcinomas with wild type TP53.", "journal": "Oncotarget", "date": "2016-11-15", "authors": "Makii Chinami, Oda Katsutoshi, Ikeda Yuji, Sone Kenbun, Hasegawa Kosei, Uehara Yuriko, Nishijima Akira, Asada Kayo, Koso Takahiro, Fukuda Tomohiko, Inaba Kanako, Oki Shinya, Machino Hidenori, Kojima Machiko, Kashiyama Tomoko, Mori-Uchino Mayuyo, Arimoto Takahide, Wada-Hiraike Osamu, Kawana Kei, Yano Tetsu, Fujiwara Keiichi, Aburatani Hiroyuki, Osuga Yutaka, Fujii Tomoyuki", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27659536", "url": "https://glygen.org/publication/PubMed/27659536" } ] }, { "title": "Cr(VI) induces premature senescence through ROS-mediated p53 pathway in L-02 hepatocytes.", "journal": "Scientific reports", "date": "2016", "authors": "Zhang Y, Zhang Y, Zhong C, Xiao F", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27698449", "url": "https://glygen.org/publication/PubMed/27698449" } ] }, { "title": "Tumor-associated mutant p53 promotes cancer cell survival upon glutamine deprivation through p21 induction.", "journal": "Oncogene", "date": "2017", "authors": "Tran TQ, Lowman XH, Reid MA, Mendez-Dorantes C, Pan M, Yang Y, Kong M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27721412", "url": "https://glygen.org/publication/PubMed/27721412" } ] }, { "title": "Efficacy of Adoptive T-cell Therapy Is Improved by Treatment with the Antioxidant N-Acetyl Cysteine, Which Limits Activation-Induced T-cell Death.", "journal": "Cancer research", "date": "2016", "authors": "Scheffel MJ, Scurti G, Simms P, Garrett-Mayer E, Mehrotra S, Nishimura MI, Voelkel-Johnson C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27742673", "url": "https://glygen.org/publication/PubMed/27742673" } ] }, { "title": "Renal Protective Effects of 17beta-Estradiol on Mice with Acute Aristolochic Acid Nephropathy.", "journal": "Molecules (Basel, Switzerland)", "date": "2016", "authors": "Shi M, Ma L, Zhou L, Fu P", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27763560", "url": "https://glygen.org/publication/PubMed/27763560" } ] }, { "title": "MG132 plus apoptosis antigen-1 (APO-1) antibody cooperate to restore p53 activity inducing autophagy and p53-dependent apoptosis in HPV16 E6-expressing keratinocytes.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2017", "authors": "Lagunas-Martinez A, Garcia-Villa E, Arellano-Gaytan M, Contreras-Ochoa CO, Dimas-Gonzalez J, Lopez-Arellano ME, Madrid-Marina V, Gariglio P", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27766434", "url": "https://glygen.org/publication/PubMed/27766434" } ] }, { "title": "Protein phosphatase Mg2+/Mn2+ dependent 1F promotes smoking-induced breast cancer by inactivating phosphorylated-p53-induced signals.", "journal": "Oncotarget", "date": "2016", "authors": "Tu SH, Lin YC, Huang CC, Yang PS, Chang HW, Chang CH, Wu CH, Chen LC, Ho YS", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27769050", "url": "https://glygen.org/publication/PubMed/27769050" } ] }, { "title": "The serum protein profile of early parity which induces protection against breast cancer.", "journal": "Oncotarget", "date": "2016", "authors": "Bracamontes CG, Lopez-Valdez R, Subramani R, Arumugam A, Nandy S, Rajamanickam V, Ravichandran V, Lakshmanaswamy R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27769065", "url": "https://glygen.org/publication/PubMed/27769065" } ] }, { "title": "PARP1 regulates the protein stability and proapoptotic function of HIPK2.", "journal": "Cell death & disease", "date": "2016-10-27", "authors": "Choi Jong-Ryoul, Shin Ki Soon, Choi Cheol Yong, Kang Shin Jung", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27787517", "url": "https://glygen.org/publication/PubMed/27787517" } ] }, { "title": "A Novel Role for Pyruvate Kinase M2 as a Corepressor for P53 during the DNA Damage Response in Human Tumor Cells.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Xia L, Wang XR, Wang XL, Liu SH, Ding XW, Chen GQ, Lu Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27810895", "url": "https://glygen.org/publication/PubMed/27810895" } ] }, { "title": "A large fraction of HLA class I ligands are proteasome-generated spliced peptides.", "journal": "Science (New York, N.Y.)", "date": "2016-10-21", "authors": "Liepe Juliane, Marino Fabio, Sidney John, Jeko Anita, Bunting Daniel E, Sette Alessandro, Kloetzel Peter M, Stumpf Michael P H, Heck Albert J R, Mishto Michele", "evidence": [ { "database": "IEDB", "id": "109248", "url": "https://www.iedb.org/epitope/109248" }, { "database": "IEDB", "id": "22154", "url": "https://www.iedb.org/epitope/22154" }, { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" } ], "reference": [ { "type": "PubMed", "id": "27846572", "url": "https://glygen.org/publication/PubMed/27846572" } ] }, { "title": "Purification of soluble HLA class I complexes from human serum or plasma deliver high quality immuno peptidomes required for biomarker discovery.", "journal": "Proteomics", "date": "2017-01", "authors": "Ritz Danilo, Gloger Andreas, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "440098", "url": "https://www.iedb.org/epitope/440098" } ], "reference": [ { "type": "PubMed", "id": "27862975", "url": "https://glygen.org/publication/PubMed/27862975" } ] }, { "title": "Suberoylanilide hydroxamic acid represses glioma stem-like cells.", "journal": "Journal of biomedical science", "date": "2016", "authors": "Hsu CC, Chang WC, Hsu TI, Liu JJ, Yeh SH, Wang JY, Liou JP, Ko CY, Chang KY, Chuang JY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27863490", "url": "https://glygen.org/publication/PubMed/27863490" } ] }, { "title": "Recurrent TP53 missense mutation in cancer patients of Arab descent.", "journal": "Familial cancer", "date": "2017", "authors": "Zick A, Kadouri L, Cohen S, Frohlinger M, Hamburger T, Zvi N, Plaser M, Avital E, Breuier S, Elian F, Salah A, Goldberg Y, Peretz T", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "27866339", "url": "https://glygen.org/publication/PubMed/27866339" } ] }, { "title": "ALK oncoproteins in atypical inflammatory myofibroblastic tumours: novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma.", "journal": "The Journal of pathology", "date": "2017", "authors": "Lee JC, Li CF, Huang HY, Zhu MJ, Marino-Enriquez A, Lee CT, Ou WB, Hornick JL, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "27874193", "url": "https://glygen.org/publication/PubMed/27874193" } ] }, { "title": "Hepatitis C virus core activates proteasomal activator 28gamma expression via upregulation of p53 levels to control virus propagation.", "journal": "The Journal of general virology", "date": "2017", "authors": "Kwak J, Tiwari I, Jang KL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27902328", "url": "https://glygen.org/publication/PubMed/27902328" } ] }, { "title": "Preimplantation factor is an anti-apoptotic effector in human trophoblasts involving p53 signaling pathway.", "journal": "Cell death & disease", "date": "2016-12-01", "authors": "Moindjie Hadia, Santos Esther Dos, Gouesse Rita-Josiane, Swierkowski-Blanchard Nelly, Serazin Val\u00e9rie, Barnea Eytan R, Vialard Fran\u00e7ois, Dieudonn\u00e9 Marie-No\u00eblle", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "27906186", "url": "https://glygen.org/publication/PubMed/27906186" } ] }, { "title": "HIC1 (hypermethylated in cancer 1) SUMOylation is dispensable for DNA repair but is essential for the apoptotic DNA damage response (DDR) to irreparable DNA double-strand breaks (DSBs).", "journal": "Oncotarget", "date": "2017", "authors": "Paget S, Dubuissez M, Dehennaut V, Nassour J, Harmon BT, Spruyt N, Loison I, Abbadie C, Rood BR, Leprince D", "evidence": [ { "database": "Reactome", "id": 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"Miyazaki J, Ito K, Fujita T, Matsuzaki Y, Asano T, Hayakawa M, Asano T, Kawakami Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28131798", "url": "https://glygen.org/publication/PubMed/28131798" } ] }, { "title": "ROCK1/p53/NOXA signaling mediates cardiomyocyte apoptosis in response to high glucose in vitro and vivo.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2017", "authors": "Su D, Guan L, Gao Q, Li Q, Shi C, Liu Y, Sun L, Lu C, Ma X, Zhao J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28131915", "url": "https://glygen.org/publication/PubMed/28131915" } ] }, { "title": "ADAR1 and PACT contribute to efficient translation of transcripts containing HIV-1 trans-activating response (TAR) element.", "journal": "The Biochemical journal", "date": "2017", "authors": "Chukwurah E, Handy I, Patel RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "28167698", "url": "https://glygen.org/publication/PubMed/28167698" } ] }, { "title": "Cyclin D mediates tolerance of genome-doubling in cancers with functional p53.", "journal": "Annals of oncology : official journal 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Olaparib.", "journal": "Translational oncology", "date": "2017", "authors": "Wang C, Jette N, Moussienko D, Bebb DG, Lees-Miller SP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28182994", "url": "https://glygen.org/publication/PubMed/28182994" } ] }, { "title": "Idelalisib and bendamustine combination is synergistic and increases DNA damage response in chronic lymphocytic leukemia cells.", "journal": "Oncotarget", "date": "2017", "authors": "Modi P, Balakrishnan K, Yang Q, Wierda WG, Keating MJ, Gandhi V", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28187444", "url": "https://glygen.org/publication/PubMed/28187444" } ] }, { "title": "Betulinic Acid-Mediated Apoptosis in Human Prostate Cancer Cells Involves p53 and Nuclear Factor-Kappa B (NF-kappaB) Pathways.", "journal": "Molecules (Basel, Switzerland)", "date": "2017", "authors": "Shankar E, Zhang A, Franco D, Gupta S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28208611", "url": "https://glygen.org/publication/PubMed/28208611" } ] }, { "title": "Deep sequencing of the TP53 gene reveals a potential risk allele for non-small cell lung cancer and supports the negative prognostic value of TP53 variants.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2017", "authors": "Deben C, Van den Bossche J, Van Der Steen N, Lardon F, Wouters A, de Beeck KO, Hermans C, Jacobs J, Peeters M, Van Camp G, Rolfo C, Deschoolmeester V, Pauwels P", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { 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Cleary Kirstie L S, Koustoulidou Sofia, Hassanali Tasneem, Yates Jenna, Greig Jenny, Nordkamp Marloes Olde, Trenevska Iva, Ternette Nicola, Kessler Benedikt M, Cornelissen Bart, Cragg Mark S, Banham Alison H", "evidence": [ { "database": "IEDB", "id": "54934", "url": "https://www.iedb.org/epitope/54934" }, { "database": "IEDB", "id": "37364", "url": "https://www.iedb.org/epitope/37364" }, { "database": "IEDB", "id": "1025009", "url": "https://www.iedb.org/epitope/1025009" }, { "database": "IEDB", "id": "20767", "url": "https://www.iedb.org/epitope/20767" } ], "reference": [ { "type": "PubMed", "id": "28363997", "url": "https://glygen.org/publication/PubMed/28363997" } ] }, { "title": "p53 pathway determines the cellular response to alcohol-induced DNA damage in MCF-7 breast cancer cells.", "journal": "PloS one", "date": "2017", "authors": "Zhao M, Howard EW, Guo Z, Parris AB, Yang X", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": 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"28458254", "url": "https://glygen.org/publication/PubMed/28458254" } ] }, { "title": "Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin.", "journal": "Nature", "date": "2017", "authors": "Wang Y, Gao W, Shi X, Ding J, Liu W, He H, Wang K, Shao F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620971", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620971" } ], "reference": [ { "type": "PubMed", "id": "28459430", "url": "https://glygen.org/publication/PubMed/28459430" } ] }, { "title": "DUX-family transcription factors regulate zygotic genome activation in placental mammals.", "journal": "Nature genetics", "date": "2017-06", "authors": "De Iaco Alberto, Planet Evarist, Coluccio Andrea, Verp Sonia, Duc Julien, Trono Didier", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "28459456", "url": 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"evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28466226", "url": "https://glygen.org/publication/PubMed/28466226" } ] }, { "title": "HIV-1 Tat potently stabilises Mdm2 and enhances viral replication.", "journal": "The Biochemical journal", "date": "2017", "authors": "Raja R, Ronsard L, Lata S, Trivedi S, Banerjea AC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28468838", "url": "https://glygen.org/publication/PubMed/28468838" } ] }, { "title": "The codon 72 polymorphism of p53 influences cell fate following nutrient deprivation.", "journal": "Cancer biology & therapy", "date": "2017", "authors": "Kung CP, Liu Q, Murphy ME", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": 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"id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28498467", "url": "https://glygen.org/publication/PubMed/28498467" } ] }, { "title": "Elevated APOBEC3B expression drives a kataegic-like mutation signature and replication stress-related therapeutic vulnerabilities in p53-defective cells.", "journal": "British journal of cancer", "date": "2017-06-27", "authors": "Nikkil\u00e4 Jenni, Kumar Rahul, Campbell James, Brandsma Inger, Pemberton Helen N, Wallberg Fredrik, Nagy Kinga, Scheer Ildik\u00f3, Vertessy Beata G, Serebrenik Artur A, Monni Valentina, Harris Reuben S, Pettitt Stephen J, Ashworth Alan, Lord Christopher J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28535155", "url": "https://glygen.org/publication/PubMed/28535155" } ] }, { "title": "[Point mutations in the DNA binding domain of p53 contribute to glioma progression and poor prognosis].", "journal": "Molekuliarnaia biologiia", "date": "2017", "authors": "Sarma PP, Dutta D, Mirza Z, Saikia KK, Baishya BK", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "28537240", "url": "https://glygen.org/publication/PubMed/28537240" } ] }, { "title": "Phosphorylation of p53 at threonine 155 is required for Jab1-mediated nuclear export of p53.", "journal": "BMB reports", "date": "2017", "authors": "Lee EW, Oh W, Song HP, Kim WK", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" } ] }, { "title": "PIG3 Regulates p53 Stability by Suppressing Its MDM2-Mediated Ubiquitination.", "journal": "Biomolecules & therapeutics", "date": "2017", "authors": "Jin M, Park SJ, Kim SW, Kim HR, Hyun JW, Lee JH", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28605833", "url": "https://glygen.org/publication/PubMed/28605833" } ] }, { "title": "Excess centrosomes induce p53-dependent senescence without DNA damage in endothelial cells.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2017", "authors": "Yu Z, Ruter DL, Kushner EJ, Bautch VL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28626028", "url": "https://glygen.org/publication/PubMed/28626028" } ] }, { "title": "A functionally significant SNP in TP53 and breast cancer risk in African-American women.", "journal": "NPJ breast cancer", "date": "2017", "authors": "Murphy ME, Liu S, Yao S, Huo D, Liu Q, Dolfi SC, Hirshfield KM, Hong CC, Hu Q, Olshan AF, Ogundiran TO, Adebamowo C, Domchek SM, Nathanson KL, Nemesure B, Ambs S, Blot WJ, Feng Y, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Ingles SA, Press MF, Deming SL, Rodriguez-Gil JL, Haiman CA, Olopade OI, Lunetta KL, Palmer JR, Ambrosone CB", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "28649645", "url": "https://glygen.org/publication/PubMed/28649645" } ] }, { "title": "BMH-21 inhibits viability and induces apoptosis by p53-dependent nucleolar stress responses in SKOV3 ovarian cancer cells.", "journal": "Oncology reports", "date": "2017", "authors": "Fu X, Xu L, Qi L, Tian H, Yi D, Yu Y, Liu S, Li S, Xu Y, Wang C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { 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Petrillo C, Lazarevic D, Cuccovillo I, Bartolaccini S, Stupka E, Gentner B, Cittaro D, Naldini L, Kajaste-Rudnitski A", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28667090", "url": "https://glygen.org/publication/PubMed/28667090" } ] }, { "title": "High glucose-induced p53 phosphorylation contributes to impairment of endothelial antioxidant system.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2017", "authors": "Wu Y, Lee S, Bobadilla S, Duan SZ, Liu X", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28673515", "url": "https://glygen.org/publication/PubMed/28673515" } ] }, { "title": "Hepatitis B virus X protein activates E3 ubiquitin ligase Siah-1 to control virus propagation via a negative feedback loop.", "journal": "The Journal of general virology", "date": "2017", "authors": "Yeom S, Kim SS, Jeong H, Jang KL", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28714848", "url": "https://glygen.org/publication/PubMed/28714848" } ] }, { "title": "Small molecule perturbation of the CAND1-Cullin1-ubiquitin cycle stabilizes p53 and triggers Epstein-Barr virus reactivation.", "journal": "PLoS pathogens", "date": "2017", "authors": "Tikhmyanova N, Tutton S, Martin KA, Lu F, Kossenkov AV, Paparoidamis N, Kenney S, Salvino JM, Lieberman PM", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28715492", "url": "https://glygen.org/publication/PubMed/28715492" } ] }, { "title": "Mertensene, a Halogenated Monoterpene, Induces G2/M Cell Cycle Arrest and Caspase Dependent Apoptosis of Human Colon Adenocarcinoma HT29 Cell Line through the Modulation of ERK-1/-2, AKT and NF-kappaB Signaling.", "journal": "Marine drugs", "date": "2017", "authors": "Tarhouni-Jabberi S, Zakraoui O, Ioannou E, Riahi-Chebbi I, Haoues M, Roussis V, Kharrat R, Essafi-Benkhadir K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28726723", "url": 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Mongolia.", "journal": "Oncology letters", "date": "2017", "authors": "Li M, Wang D, Wang Y, Sun G, Song W, Zhang B, Borjigin B", "evidence": [ { "database": "Entrez", "id": "7157", "url": "https://www.ncbi.nlm.nih.gov/gene/7157" } ], "reference": [ { "type": "PubMed", "id": "28789369", "url": "https://glygen.org/publication/PubMed/28789369" } ] }, { "title": "Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants.", "journal": "Scientific reports", "date": "2017", "authors": "Mlody B, Wruck W, Martins S, Sperling K, Adjaye J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28790359", "url": "https://glygen.org/publication/PubMed/28790359" } ] }, { "title": "Endocrine disruptors induce perturbations in endoplasmic reticulum and mitochondria of human pluripotent stem cell derivatives.", "journal": "Nature communications", "date": "2017", "authors": "Rajamani U, Gross AR, Ocampo C, Andres AM, Gottlieb RA, Sareen D", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28794470", "url": "https://glygen.org/publication/PubMed/28794470" } ] }, { "title": "Methyl pyruvate protects a normal lung fibroblast cell line from irinotecan-induced cell death: Potential use as adjunctive to chemotherapy.", "journal": "PloS one", "date": "2017", "authors": "Monchusi B, Ntwasa M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28797070", "url": "https://glygen.org/publication/PubMed/28797070" } ] }, { "title": "Oxidant species are involved in T/B-mediated ERK1/2 phosphorylation that activates p53-p21 axis to promote KSHV lytic cycle in PEL cells.", "journal": "Free radical biology & medicine", "date": "2017", "authors": "Gonnella R, Yadav S, Gilardini Montani MS, Granato M, Santarelli R, Garufi A, D'Orazi G, Faggioni A, Cirone M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28801242", "url": "https://glygen.org/publication/PubMed/28801242" } ] }, { "title": "USP3 stabilizes p53 protein through its deubiquitinase activity.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Fu S, Shao S, Wang L, Liu H, Hou H, Wang Y, Wang H, Huang X, Lv R", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "28807825", "url": "https://glygen.org/publication/PubMed/28807825" } ] }, { "title": "AKT2 suppresses pro-survival autophagy triggered by DNA double-strand breaks in colorectal cancer cells.", "journal": "Cell death & disease", "date": "2017", "authors": "Seiwert N, Neitzel C, Stroh S, Frisan T, Audebert M, Toulany M, Kaina B, Fahrer J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28837154", "url": "https://glygen.org/publication/PubMed/28837154" } ] }, { "title": "DDX3 localizes to the centrosome and prevents multipolar mitosis by epigenetically and translationally modulating p53 expression.", "journal": "Scientific reports", "date": "2017", "authors": "Chen WJ, Wang WT, Tsai TY, Li HK, Lee YW", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28842590", "url": "https://glygen.org/publication/PubMed/28842590" } ] }, { "title": "Effect of HPV E6/E7 siRNA with Chemotherapeutic Agents on the Regulation of TP53/E2F Dynamic Behavior for Cell Fate Decisions.", "journal": "Neoplasia (New York, N.Y.)", "date": "2017", "authors": "Rajasekaran N, Jung HS, Bae SH, Chelakkot C, Hong S, Choi JS, Yim DS, Oh YK, Choi YL, Shin YK", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28843398", "url": "https://glygen.org/publication/PubMed/28843398" } ] }, { "title": "Hyper-O-GlcNAcylation induces cisplatin resistance via regulation of p53 and c-Myc in human lung carcinoma.", "journal": "Scientific reports", "date": "2017", "authors": "Luanpitpong S, Angsutararux P, Samart P, Chanthra N, Chanvorachote P, Issaragrisil S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04637", "url": 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Blan\u00e1\u0159ov\u00e1 Olga, Sova Petr, Kozub\u00edk Alois, Hyr\u0161lov\u00e1 Vaculov\u00e1 Alena", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28888100", "url": "https://glygen.org/publication/PubMed/28888100" } ] }, { "title": "Unveiling the Peptide Motifs of HLA-C and HLA-G from Naturally Presented Peptides and Generation of Binding Prediction Matrices.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2017-10-15", "authors": "Di Marco Moreno, Schuster Heiko, Backert Linus, Ghosh Michael, Rammensee Hans-Georg, Stevanovi\u0107 Stefan", "evidence": [ { "database": "IEDB", "id": "487184", "url": "https://www.iedb.org/epitope/487184" } ], "reference": [ { "type": "PubMed", "id": "28904123", "url": "https://glygen.org/publication/PubMed/28904123" } ] }, { "title": "Tia1 dependent regulation of mRNA subcellular location and translation controls p53 expression in B cells.", "journal": "Nature communications", "date": "2017", "authors": "Diaz-Munoz MD, Kiselev VY, Le Novere N, Curk T, Ule J, Turner M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28904350", "url": "https://glygen.org/publication/PubMed/28904350" } ] }, { "title": "Identification of a novel p53 target, COL17A1, that inhibits breast cancer cell migration and invasion.", "journal": "Oncotarget", "date": "2017", "authors": "Yodsurang V, Tanikawa C, Miyamoto T, Lo PHY, Hirata M, Matsuda K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28915553", "url": "https://glygen.org/publication/PubMed/28915553" } ] }, { "title": "Classical swine fever virus Shimen infection increases p53 signaling to promote cell cycle arrest in porcine alveolar macrophages.", "journal": "Oncotarget", "date": "2017-08-22", "authors": "Ning Pengbo, Hu Congxia, Li Xuepeng, Zhou Yulu, Hu Aoxue, Zhang Ya, Gao Lifang, Gong Cunmei, Guo Kangkang, Zhang Xianghan, Zhang Yanming", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28915564", "url": "https://glygen.org/publication/PubMed/28915564" } ] }, { "title": "SOX14 activates the p53 signaling pathway and induces apoptosis in a cervical carcinoma cell line.", "journal": "PloS one", "date": "2017", "authors": "Stanisavljevic Danijela, Petrovic Isidora, Vukovic Vladanka, Schwirtlich Marija, Gredic Marija, Stevanovic Milena, Popovic Jelena", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28926586", "url": 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Wang C, Liang H, Li YQ, Yang HT, Qin YW, Huang S, Zhao XX, Jing Q", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "28971953", "url": "https://glygen.org/publication/PubMed/28971953" } ] }, { "title": "TLR9 stimulation of B-cells induces transcription of p53 and prevents spontaneous and irradiation-induced cell death independent of DNA damage responses. 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delivery", "date": "2018-11", "authors": "Ma Bin, He Lizhen, You Yuanyuan, Mo Jianbin, Chen Tianfeng", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "29334793", "url": "https://glygen.org/publication/PubMed/29334793" } ] }, { "title": "CDK16 Phosphorylates and Degrades p53 to Promote Radioresistance and Predicts Prognosis in Lung Cancer.", "journal": "Theranostics", "date": "2018", "authors": "Xie J, Li Y, Jiang K, Hu K, Zhang S, Dong X, Dai X, Liu L, Zhang T, Yang K, Huang K, Chen J, Shi S, Zhang Y, Wu G, Xu S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "29344296", "url": "https://glygen.org/publication/PubMed/29344296" } ] }, { "title": "Stress-induced TRBP phosphorylation enhances its interaction with PKR to regulate cellular survival.", "journal": "Scientific reports", "date": "2018", "authors": "Chukwurah E, Patel RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "29348664", "url": "https://glygen.org/publication/PubMed/29348664" } ] }, { "title": "TP53 is required for BECN1- and ATG5-dependent cell death induced by sphingosine kinase 1 inhibition.", "journal": "Autophagy", "date": "2018", "authors": "Lima S, Takabe K, Newton J, Saurabh K, Young MM, Leopoldino AM, Hait NC, Roberts JL, Wang HG, Dent P, Milstien S, Booth L, Spiegel S", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "29368980", "url": "https://glygen.org/publication/PubMed/29368980" } ] }, { "title": "The Antigen ASB4 on Cancer Stem Cells Serves as a Target for CTL Immunotherapy of Colorectal Cancer.", "journal": "Cancer immunology research", "date": "2018", "authors": "Miyamoto S, Kochin V, Kanaseki T, Hongo A, Tokita S, Kikuchi Y, Takaya A, Hirohashi Y, Tsukahara T, Terui T, Ishitani K, Hata F, Takemasa I, Miyazaki A, Hiratsuka H, Sato N, Torigoe T", "evidence": [ { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" } ], "reference": [ { "type": "PubMed", "id": "29371260", "url": "https://glygen.org/publication/PubMed/29371260" } ] }, { "title": "Bisphenol A induces cell cycle arrest in primary and prostate cancer cells through EGFR/ERK/p53 signaling pathway activation.", "journal": "Oncotarget", "date": "2017", "authors": "Bilancio A, Bontempo P, Di Donato M, Conte M, Giovannelli P, Altucci L, Migliaccio A, Castoria G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "29383186", "url": "https://glygen.org/publication/PubMed/29383186" } ] }, { "title": "beta-Sitosterol targets Trx/Trx1 reductase to induce apoptosis in A549 cells via ROS mediated mitochondrial dysregulation and p53 activation.", "journal": "Scientific reports", "date": "2018", "authors": "Rajavel T, Packiyaraj P, Suryanarayanan V, Singh SK, Ruckmani K, Pandima Devi K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "29391428", "url": "https://glygen.org/publication/PubMed/29391428" } ] }, { "title": "Nc886 is epigenetically repressed in prostate cancer and acts as a tumor suppressor through the inhibition of cell growth.", "journal": "BMC cancer", "date": "2018-02-02", "authors": "Fort Rafael Sebasti\u00e1n, Math\u00f3 Cecilia, Geraldo Murilo Vieira, Ottati Mar\u00eda Carolina, Yamashita Alex Shimura, Saito Kelly Cristina, Leite Katia Ramos Moreira, M\u00e9ndez Manuel, Maedo 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Posttranslationally Modified HLA-B*57:01-Restricted HIV Envelope Derived Epitopes Using Immunoproteomics.", "journal": "Proteomics", "date": "2018-06", "authors": "Ramarathinam Sri H, Gras Stephanie, Alcantara Sheilajen, Yeung Amanda W S, Mifsud Nicole A, Sonza Secondo, Illing Patricia T, Glaros Elias N, Center Robert J, Thomas Shane R, Kent Stephen J, Ternette Nicola, Purcell Damian F J, Rossjohn Jamie, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "598612", "url": "https://www.iedb.org/epitope/598612" } ], "reference": [ { "type": "PubMed", "id": "29437277", "url": "https://glygen.org/publication/PubMed/29437277" } ] }, { "title": "Role of eIF2\u03b1 Kinases in Translational Control and Adaptation to Cellular Stress.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2018-07-02", "authors": "Wek Ronald C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ 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Spolnicka M, Pospiech E, Peplonska B, Zbiec-Piekarska R, Ilkowski J, Styczynska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Skrzypczak M, Ginalski K, Kabza M, Makalowska I, Barcikowska-Kotowicz M, Branicki W, Zekanowski C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "29849909", "url": "https://glygen.org/publication/PubMed/29849909" } ] }, { "title": "STAT3: a multifaceted oncoprotein.", "journal": "Growth factors (Chur, Switzerland)", "date": "2018", "authors": "Guanizo AC, Fernando CD, Garama DJ, Gough DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "29873274", "url": "https://glygen.org/publication/PubMed/29873274" } ] }, { "title": "Loss of the ubiquitin conjugating enzyme UBE2E3 induces cellular senescence.", "journal": 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"authors": "Stolte B, Iniguez AB, Dharia NV, Robichaud AL, Conway AS, Morgan AM, Alexe G, Schauer NJ, Liu X, Bird GH, Tsherniak A, Vazquez F, Buhrlage SJ, Walensky LD, Stegmaier K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30045945", "url": "https://glygen.org/publication/PubMed/30045945" } ] }, { "title": "A Nucleolar Stress-Specific p53-miR-101 Molecular Circuit Functions as an Intrinsic Tumor-Suppressor Network.", "journal": "EBioMedicine", "date": "2018", "authors": "Fujiwara Y, Saito M, Robles AI, Nishida M, Takeshita F, Watanabe M, Ochiya T, Yokota J, Kohno T, Harris CC, Tsuchiya N", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30049386", "url": "https://glygen.org/publication/PubMed/30049386" } ] }, { "title": "A dual role of 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J. Hum. Genet.", "date": "2018", "authors": "Toki Tsutomu, Yoshida Kenichi, Wang RuNan, Nakamura Sou, Maekawa Takanobu, Goi Kumiko, Katoh Megumi C, Mizuno Seiya, Sugiyama Fumihiro, Kanezaki Rika, Uechi Tamayo, Nakajima Yukari, Sato Yusuke, Okuno Yusuke, Sato-Otsubo Aiko, Shiozawa Yusuke, Kataoka Keisuke, Shiraishi Yuichi, Sanada Masashi, Chiba Kenichi, Tanaka Hiroko, Terui Kiminori, Sato Tomohiko, Kamio Takuya, Sakaguchi Hirotoshi, Ohga Shouichi, Kuramitsu Madoka, Hamaguchi Isao, Ohara Akira, Kanno Hitoshi, Miyano Satoru, Kojima Seiji, Ishiguro Akira, Sugita Kanji, Kenmochi Naoya, Takahashi Satoru, Eto Koji, Ogawa Seishi, Ito Etsuro", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "30146126", "url": "https://glygen.org/publication/PubMed/30146126" } ] }, { "title": "MRE11 inhibition highlights a replication stress-dependent vulnerability of MYCN-driven tumors.", "journal": "Cell death & disease", "date": "2018", "authors": "Petroni M, Sardina F, Infante P, Bartolazzi A, Locatelli E, Fabretti F, Di Giulio S, Capalbo C, Cardinali B, Coppa A, Tessitore A, Colicchia V, Sahun Roncero M, Belardinilli F, Di Marcotullio L, Soddu S, Comes Franchini M, Petricci E, Gulino A, Giannini G", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30166519", "url": "https://glygen.org/publication/PubMed/30166519" } ] }, { "title": "PKR Senses Nuclear and Mitochondrial Signals by Interacting with Endogenous Double-Stranded RNAs.", "journal": "Molecular cell", "date": "2018-09-20", "authors": "Kim Yoosik, Park Joha, Kim Sujin, Kim MinA, Kang Myeong-Gyun, Kwak Chulhwan, Kang Minjeong, Kim Baekgyu, Rhee Hyun-Woo, Kim V Narry", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "30174290", "url": "https://glygen.org/publication/PubMed/30174290" } ] }, { "title": "Transcriptional repression of IKKbeta by p53 in arsenite-induced GADD45alpha accumulation and apoptosis.", "journal": "Oncogene", "date": "2019", "authors": "Hu Y, Jin R, Gao M, Xu H, Zou S, Li X, Xing C, Wang Q, Wang H, Feng J, Hu M, Song L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30177839", "url": "https://glygen.org/publication/PubMed/30177839" } ] }, { "title": "Non-canonical Activation of the DNA Sensing Adaptor STING by ATM and IFI16 Mediates NF-kappaB Signaling after Nuclear DNA Damage.", "journal": "Molecular cell", "date": "2018", "authors": "Dunphy G, Flannery SM, Almine JF, Connolly DJ, Paulus C, Jonsson KL, Jakobsen MR, Nevels MM, Bowie AG, Unterholzner L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30193098", "url": "https://glygen.org/publication/PubMed/30193098" } ] }, { "title": "KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells.", "journal": "Cell death discovery", "date": "2018", "authors": "Sankunny M, Eng C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30245854", "url": "https://glygen.org/publication/PubMed/30245854" } ] }, { "title": "A single synonymous mutation determines the phosphorylation and stability of the nascent protein.", "journal": "Journal of molecular cell biology", "date": "2019", "authors": "Karakostis K, Vadivel Gnanasundram S, Lopez I, Thermou A, Wang L, Nylander K, Olivares-Illana V, Fahraeus R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30252118", "url": "https://glygen.org/publication/PubMed/30252118" } ] }, { "title": "TC2N, a novel oncogene, accelerates tumor progression by suppressing p53 signaling pathway in lung cancer.", "journal": "Cell death and differentiation", "date": "2019", "authors": "Hao XL, Han F, Zhang N, Chen HQ, Jiang X, Yin L, Liu WB, Wang DD, Chen JP, Cui ZH, Ao L, Cao J, Liu JY", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30254375", "url": "https://glygen.org/publication/PubMed/30254375" } ] }, { "title": "Molecular basis for heterogeneity of the human p53 protein.", "journal": "Mol. 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"authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Evaluation of Maltose Binding Protein-Tagged hATR Kinase Domain Catalytic Activity with p53 Ser-15 Phosphorylation.", "journal": "Biochemistry", "date": "2018-11-27", "authors": "Bhakuni Rashmi, Shaik Althaf, Kirubakaran Sivapriya", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30380295", "url": "https://glygen.org/publication/PubMed/30380295" } ] }, { "title": "KDM5A Regulates a Translational Program that Controls p53 Protein Expression.", "journal": "iScience", "date": "2018", "authors": "Hu D, Jablonowski C, Cheng PH, AlTahan A, Li C, Wang Y, Palmer L, Lan C, Sun B, Abu-Zaid A, Fan Y, Brimble M, Gamboa NT, Kumbhar RC, Yanishevski D, Miller KM, Kang G, Zambetti GP, Chen T, Yan Q, Davidoff AM, Yang J", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30388705", "url": "https://glygen.org/publication/PubMed/30388705" } ] }, { "title": "Porcine reproductive and respiratory syndrome virus inhibits MARC-145 proliferation via inducing apoptosis and G2/M arrest by activation of Chk/Cdc25C and p53/p21 pathway.", "journal": "Virology journal", "date": "2018-11-06", "authors": "Song Linlin, Han Ximeng, Jia Cunyu, Zhang Xin, Jiao Yunjie, Du Taofeng, Xiao Shuqi, Hiscox Julian A, Zhou En-Min, Mu Yang", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30400903", "url": "https://glygen.org/publication/PubMed/30400903" } ] }, { "title": "The Ubiquitin-Proteasome System Is Indispensable for the Maintenance of Muscle Stem Cells.", "journal": "Stem cell reports", "date": "2018", "authors": "Kitajima Y, Suzuki N, Nunomiya A, Osana S, Yoshioka K, Tashiro Y, Takahashi R, Ono Y, Aoki M, Nagatomi R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30416048", "url": "https://glygen.org/publication/PubMed/30416048" } ] }, { "title": "IL-24 Promotes Apoptosis through cAMP-Dependent PKA Pathways in Human Breast Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Persaud L, Mighty J, Zhong X, Francis A, Mendez M, Muharam H, Redenti SM, Das D, Aktas BH, Sauane M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30424508", "url": "https://glygen.org/publication/PubMed/30424508" } ] }, { "title": "The Length Distribution and Multiple Specificity of Naturally Presented HLA-I Ligands.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2018-12-15", "authors": "Gfeller David, Guillaume Philippe, Michaux Justine, Pak Hui-Song, Daniel Roy T, Racle Julien, Coukos George, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" }, { "database": "IEDB", "id": "109248", "url": "https://www.iedb.org/epitope/109248" }, { "database": "IEDB", "id": "487184", "url": "https://www.iedb.org/epitope/487184" }, { "database": "IEDB", "id": "231861", "url": "https://www.iedb.org/epitope/231861" }, { "database": "IEDB", "id": "878838", "url": "https://www.iedb.org/epitope/878838" } ], "reference": [ { "type": "PubMed", "id": "30429286", "url": "https://glygen.org/publication/PubMed/30429286" } ] }, { "title": "A widely compatible expression system for the production of highly O-GlcNAcylated recombinant protein in Escherichia coli.", "journal": "Glycobiology", "date": "2018", "authors": "Gao H, Shi M, Wang R, Wang C, Shao C, Gu Y, Yu W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" } ], "reference": [ { "type": "PubMed", "id": "30462203", "url": "https://glygen.org/publication/PubMed/30462203" } ] }, { "title": "LncRNA Meg3 protects endothelial function by regulating the DNA damage response.", "journal": "Nucleic acids research", "date": "2019", "authors": "Shihabudeen Haider Ali MS, Cheng X, Moran M, Haemmig S, Naldrett MJ, Alvarez S, Feinberg MW, Sun X", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30476192", "url": "https://glygen.org/publication/PubMed/30476192" } ] }, { "title": "IKKbeta activates p53 to promote cancer cell adaptation to glutamine deprivation.", "journal": "Oncogenesis", "date": "2018", "authors": "Ishak Gabra MB, Yang Y, Lowman XH, Reid MA, Tran TQ, Kong M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30478303", "url": "https://glygen.org/publication/PubMed/30478303" } ] }, { "title": "Targeting phosphorylated p53 to elicit tumor-reactive T helper responses against head and neck squamous cell carcinoma.", "journal": "Oncoimmunology", "date": "2018", "authors": "Ohara K, Ohkuri T, Kumai T, Nagato T, Nozaki Y, Ishibashi K, Kosaka A, Nagata M, Harabuchi S, Ohara M, Oikawa K, Aoki N, Harabuchi Y, Celis E, Kobayashi H", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30510853", "url": "https://glygen.org/publication/PubMed/30510853" } ] }, { "title": "A Soft Coral-Derived Compound, 11-Dehydrosinulariolide, Induces G2/M Cell Cycle Arrest and Apoptosis in Small Cell Lung Cancer.", "journal": "Marine drugs", "date": "2018", "authors": "Lin YC, Su JH, Lin SC, Chang CC, Hsia TC, Tung YT, Lin CC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30513611", "url": "https://glygen.org/publication/PubMed/30513611" } ] }, { "title": "The transcription factors TFE3 and TFEB amplify p53 dependent transcriptional programs in response to DNA damage.", "journal": "eLife", "date": "2018", "authors": "Brady OA, Jeong E, Martina JA, Pirooznia M, Tunc I, Puertollano R", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30520728", "url": "https://glygen.org/publication/PubMed/30520728" } ] }, { "title": "A Potent Tumor-Reactive p53-Specific Single-Chain TCR without On- or Off-Target Autoimmunity In\u00a0Vivo.", "journal": "Molecular therapy : the journal of the American Society of Gene Therapy", "date": "2019-01-02", "authors": "Echchannaoui Hakim, Petschenka Jutta, Ferreira Edite Antunes, Hauptrock Beate, Lotz-Jenne Carina, Voss Ralf-Holger, Theobald Matthias", "evidence": [ { "database": "IEDB", "id": "37364", "url": "https://www.iedb.org/epitope/37364" } ], "reference": [ { "type": "PubMed", "id": "30528087", "url": "https://glygen.org/publication/PubMed/30528087" } ] }, { "title": "Prevention of Wogonin on Colorectal Cancer Tumorigenesis by Regulating p53 Nuclear Translocation.", "journal": "Frontiers in pharmacology", "date": "2018", "authors": "Feng Q, Wang H, Pang J, Ji L, Han J, Wang Y, Qi X, Liu Z, Lu L", "evidence": [ { "database": "iPTMnet", "id": 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"journal": "Cell death and differentiation", "date": "2019", "authors": "Shao J, Lu J, Zhu W, Yu H, Jing X, Wang YL, Wang X, Wang XJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30728460", "url": "https://glygen.org/publication/PubMed/30728460" } ] }, { "title": "Cold Physical Plasma Modulates p53 and Mitogen-Activated Protein Kinase Signaling in Keratinocytes.", "journal": "Oxidative medicine and cellular longevity", "date": "2019", "authors": "Schmidt A, Bekeschus S, Jarick K, Hasse S, von Woedtke T, Wende K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "30733851", "url": "https://glygen.org/publication/PubMed/30733851" } ] }, { "title": "The search for a PKR code-differential regulation of protein kinase R activity by diverse RNA 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damage response.", "journal": "Communications biology", "date": "2020-05-19", "authors": "Sola Martina, Magrin Claudia, Pedrioli Giona, Pinton Sandra, Salvad\u00e8 Agnese, Papin St\u00e9phanie, Paganetti Paolo", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "32427887", "url": "https://glygen.org/publication/PubMed/32427887" } ] }, { "title": "The leaving group in Au(I)-phosphine compounds dictates cytotoxic pathways in CEM leukemia cells and reactivity towards a Cys2His2 model zinc finger.", "journal": "Dalton transactions (Cambridge, England : 2003)", "date": "2020-11-25", "authors": "de Paiva Raphael E F, Peterson Erica J, Du Zhifeng, Farrell Nicholas P", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "32432260", "url": 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Kuntze) Flower Saponins Induce the p53-Dependent Intrinsic Apoptosis of Cisplatin-Resistant Ovarian Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2020-06-17", "authors": "Ren Ning, Chen Lianfu, Li Bo, Rankin Gary O, Chen Yi Charlie, Tu Youying", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "32560563", "url": "https://glygen.org/publication/PubMed/32560563" } ] }, { "title": "NEK10 tyrosine phosphorylates p53 and controls its transcriptional activity.", "journal": "Oncogene", "date": "2020", "authors": "Haider N, Dutt P, van de Kooij B, Ho J, Palomero L, Pujana MA, Yaffe M, Stambolic V", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "32561851", "url": "https://glygen.org/publication/PubMed/32561851" } ] 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Presentation in Immune Cells Upon Activation Reveals Changes in Peptide Length Preference.", "journal": "Frontiers in immunology", "date": "2020", "authors": "Marino Fabio, Semilietof Aikaterini, Michaux Justine, Pak Hui-Song, Coukos George, M\u00fcller Markus, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "764231", "url": "https://www.iedb.org/epitope/764231" }, { "database": "IEDB", "id": "938631", "url": "https://www.iedb.org/epitope/938631" } ], "reference": [ { "type": "PubMed", "id": "32983136", "url": "https://glygen.org/publication/PubMed/32983136" } ] }, { "title": "CEP131 Abrogates CHK1 Inhibitor-Induced Replication Defects and Is Associated with Unfavorable Outcome in Neuroblastoma.", "journal": "Journal of oncology", "date": "2020", "authors": "Ando Kiyohiro, C\u00e1zares-Ordo\u00f1ez Verna, Makishima Makoto, Yokoyama Atsushi, Suenaga Yusuke, Nagase Hiroki, Kobayashi Shinichi, Kamijo Takehiko, Koshinaga Tsugumichi, Wada Satoshi", "evidence": [ { 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Liting", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33061640", "url": "https://glygen.org/publication/PubMed/33061640" } ] }, { "title": "Inactivation of homeodomain-interacting protein kinase 2 promotes oral squamous cell carcinoma metastasis through inhibition of P53-dependent E-cadherin expression.", "journal": "Cancer science", "date": "2021-01", "authors": "Zheng Xueqing, Pan Yuemei, Chen Xinming, Xia Shu, Hu Yaying, Zhou Yi, Zhang Jiali", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33063904", "url": "https://glygen.org/publication/PubMed/33063904" } ] }, { "title": "RasGRP1 induces autophagy and transformation-associated changes in primary human keratinocytes.", "journal": "Translational oncology", "date": "2021-01", "authors": "Fonseca Lauren L, Yang Won Seok, Geerts Dirk, Turkson James, Ji Junfang, Ramos Joe W", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33074128", "url": "https://glygen.org/publication/PubMed/33074128" } ] }, { "title": "Stress-induced p53 drives BAG5 cochaperone expression to control alpha-synuclein aggregation in Parkinson's disease.", "journal": "Aging", "date": "2020", "authors": "Chen HY, Lin CH, Teng SC", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33085644", "url": "https://glygen.org/publication/PubMed/33085644" } ] }, { "title": "HLA-DR15 Molecules Jointly Shape an Autoreactive T Cell Repertoire in Multiple Sclerosis.", "journal": "Cell", "date": "2020-11-25", "authors": "Wang Jian, Jelcic Ivan, M\u00fchlenbruch Lena, Haunerdinger Veronika, Toussaint Nora C, Zhao Yingdong, Cruciani Carolina, Faigle Wolfgang, Naghavian Reza, Foege Magdalena, Binder Thomas M C, Eiermann Thomas, Opitz Lennart, Fuentes-Font Laura, Reynolds Richard, Kwok William W, Nguyen Julie T, Lee Jar-How, Lutterotti Andreas, M\u00fcnz Christian, Rammensee Hans-Georg, Hauri-Hohl Mathias, Sospedra Mireia, Stevanovic Stefan, Martin Roland", "evidence": [ { "database": "IEDB", "id": "440098", "url": "https://www.iedb.org/epitope/440098" } ], "reference": [ { "type": "PubMed", "id": "33091337", "url": "https://glygen.org/publication/PubMed/33091337" } ] }, { "title": "Autophagic feedback-mediated degradation of IKK\u03b1 requires CHK1- and p300/CBP-dependent acetylation of p53.", "journal": "Journal of cell science", "date": "2020-11-16", "authors": "Xu Xiuduan, Zhang Chongchong, Xu Huan, Wu Lin, Hu Meiru, Song Lun", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": 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"id": "33141586", "url": "https://glygen.org/publication/PubMed/33141586" } ] }, { "title": "Nucleolar stress induces a senescence-like phenotype in smooth muscle cells and promotes development of vascular degeneration.", "journal": "Aging", "date": "2020-11-04", "authors": "Zhang Wenjing, Cheng Wen, Parlato Rosanna, Guo Xiaosun, Cui Xiaopei, Dai Chaochao, Xu Lei, Zhu Jiankang, Zhu Min, Luo Kun, Zhang Wencheng, Dong Bo, Wang Jianli, Jiang Fan", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33146634", "url": "https://glygen.org/publication/PubMed/33146634" } ] }, { "title": "Multiple biochemical properties of the p53 molecule contribute to activation of polymerase iota-dependent DNA damage tolerance.", "journal": "Nucleic acids research", "date": "2020", "authors": "Biber S, Pospiech H, Gottifredi V, Wiesmuller L", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33166398", "url": "https://glygen.org/publication/PubMed/33166398" } ] }, { "title": "Nanoformulation enhances anti-angiogenic efficacy of tunicamycin.", "journal": "Translational cancer research", "date": "2013-08", "authors": "Banerjee Aditi, Johnson Karen T, Banerjee Ipsita A, Banerjee Dipak K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33209651", "url": "https://glygen.org/publication/PubMed/33209651" } ] }, { "title": "Redox activation of ATM enhances GSNOR translation to sustain mitophagy and tolerance to oxidative stress.", "journal": "EMBO reports", "date": "2021-01-07", "authors": "Cirotti Claudia, Rizza Salvatore, Giglio Paola, Poerio Noemi, Allega Maria Francesca, Claps Giuseppina, Pecorari Chiara, Lee Ji-Hoon, Benassi Barbara, Baril\u00e0 Daniela, Robert Caroline, Stamler Jonathan S, Cecconi Francesco, Fraziano Maurizio, Paull Tanya T, Filomeni Giuseppe", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33245190", "url": "https://glygen.org/publication/PubMed/33245190" } ] }, { "title": "Auto-antibodies against apolipoprotein A-1 block cancer cells proliferation and induce apoptosis.", "journal": "Oncotarget", "date": "2020-11-17", "authors": "Satta Nathalie, Weppe R\u00e9my, Pagano Sabrina, Frias Miguel, Juillard Catherine, Vuilleumier Nicolas", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33245719", "url": "https://glygen.org/publication/PubMed/33245719" } ] }, { "title": "Association of MicroRNA-21 with p53 at Mutant Sites R175H and R248Q, Clinicopathological Features, and Prognosis of NSCLC.", "journal": "Molecular therapy oncolytics", "date": "2020-12-16", "authors": "Zhou Yaodong, Guo Dongdong, Zhang Yixin", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33251333", "url": "https://glygen.org/publication/PubMed/33251333" } ] }, { "title": "Pogostemon cablin Triggered ROS-Induced DNA Damage to Arrest Cell Cycle Progression and Induce Apoptosis on Human Hepatocellular Carcinoma In Vitro and In Vivo.", "journal": "Molecules (Basel, Switzerland)", "date": "2020-11-30", "authors": "Huang Xiao-Fan, Sheu Gwo-Tarng, Chang Kai-Fu, Huang Ya-Chih, Hung Pei-Hsiu, Tsai Nu-Man", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33266043", "url": "https://glygen.org/publication/PubMed/33266043" } ] }, { "title": "High-expression of ROCK1 modulates the apoptosis of lens epithelial cells in age-related cataracts by targeting p53 gene.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2020-12-09", "authors": "Hu Shanshan, Su Dongmei, Sun Lei, Wang Zhongying, Guan Lina, Liu Shanhe, Zhao Baowen, Liu Yong, Shi Cuige, Yu Jianbo, Ma Xu", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33297931", "url": "https://glygen.org/publication/PubMed/33297931" } ] }, { "title": "Thermostability profiling of MHC-bound peptides: a new dimension in immunopeptidomics and aid for immunotherapy design.", "journal": "Nature communications", "date": "2020-12-09", "authors": "Jappe Emma C, Garde Christian, Ramarathinam Sri H, Passantino Ethan, Illing Patricia T, Mifsud Nicole A, Trolle Thomas, Kringelum Jens V, Croft Nathan P, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1353046", "url": "https://www.iedb.org/epitope/1353046" }, { "database": "IEDB", "id": "37364", "url": "https://www.iedb.org/epitope/37364" }, { "database": "IEDB", "id": "20767", "url": "https://www.iedb.org/epitope/20767" }, { "database": "IEDB", "id": "440098", "url": "https://www.iedb.org/epitope/440098" } ], "reference": [ { "type": "PubMed", "id": "33298915", "url": "https://glygen.org/publication/PubMed/33298915" } ] }, { "title": "Reticulon 3-mediated Chk2/p53 activation suppresses hepatocellular carcinogenesis and is blocked by hepatitis B virus.", "journal": "Gut", "date": "2021-11", "authors": "Song Shushu, Shi Yinghong, Wu Weicheng, Wu Hao, Chang Lei, Peng Peike, Zhang Lei, Fan Jia, Gu Jianxin, Ruan Yuanyuan", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33303565", "url": "https://glygen.org/publication/PubMed/33303565" } ] }, { "title": "A cell competition-based small molecule screen identifies a novel compound that induces dual c-Myc depletion and p53 activation.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Tadele Dagim Shiferaw, Robertson Joseph, Crispin Richard, Herrera Maria C, Chlubnov\u00e1 Mark\u00e9ta, Piechaczyk Laure, Ayuda-Dur\u00e1n Pilar, Singh Sachin Kumar, Gedde-Dahl Tobias, Fl\u00f8isand Yngvar, Skavland J\u00f8rn, Wesche J\u00f8rgen, Gjertsen Bj\u00f8rn-Tore, Enserink Jorrit M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33303632", "url": "https://glygen.org/publication/PubMed/33303632" } ] }, { "title": "Dissection of Anti-tumor Activity of Histone Deacetylase Inhibitor SAHA in Nasopharyngeal Carcinoma Cells via Quantitative Phosphoproteomics.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Huang Huichao, Fu Ying, Zhang Ye, Peng Fang, Lu Miaolong, Feng Yilu, Chen Lin, Chen Zhuchu, Li Maoyu, Chen Yongheng", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33324635", "url": "https://glygen.org/publication/PubMed/33324635" } ] }, { "title": "ERK1/2 inhibition reduces vascular calcification by activating miR-126-3p-DKK1/LRP6 pathway.", "journal": "Theranostics", "date": "2021", "authors": "Zeng Peng, Yang Jie, Liu Lipei, Yang Xiaoxiao, Yao Zhi, Ma Chuanrui, Zhu Haibo, Su Jiamin, Zhao Qian, Feng Ke, Yang Shu, Zhu Yan, Li Xiaoju, Wang Wenguang, Duan Yajun, Han Jihong, Chen Yuanli", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33391525", "url": "https://glygen.org/publication/PubMed/33391525" } ] }, { "title": "Adaptation to Endoplasmic Reticulum Stress Enhances Resistance of Oral Cancer Cells to Cisplatin by Up-Regulating Polymerase \u03b7 and Increasing DNA Repair Efficiency.", "journal": "International journal of molecular sciences", "date": "2020-12-31", "authors": "Chen Cho-Yi, Kawasumi Masaoki, Lan Tien-Yun, Poon Chi-Lam, Lin Yi-Sian, Wu Pin-Jou, Chen Yao-Chung, Chen Bing-Hong, Wu Cheng-Hsien, Lo Jeng-Fan, Weng Rueyhung Roc, Sun Yi-Chen, Hung Kai-Feng", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33396303", "url": "https://glygen.org/publication/PubMed/33396303" } ] }, { "title": "Novel modulators of p53-signaling encoded by unknown genes of emerging viruses.", "journal": "PLoS pathogens", "date": "2021-01", "authors": "Alzhanova Dina, Corcoran Kathleen, Bailey Aubrey G, Long Kristin, Taft-Benz 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"https://glygen.org/publication/PubMed/33431809" } ] }, { "title": "A phosphorylation-dependent switch in the disordered p53 transactivation domain regulates DNA binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021-01-05", "authors": "Sun Xun, Dyson H Jane, Wright Peter E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33443163", "url": "https://glygen.org/publication/PubMed/33443163" } ] }, { "title": "p21WAF1/CIP1 promotes p53 protein degradation by facilitating p53-Wip1 and p53-Mdm2 interaction.", "journal": "Biochemical and biophysical research communications", "date": "2021-03-05", "authors": "Lee Jihyun, Kim Jongdoo, Kim Eun Mi, Kim Ukjin, Kang A-Ram, Park Jong Kuk, Um Hong-Duck", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": 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single amino-acid substitutions.", "journal": "Oncoimmunology", "date": "2021-01-18", "authors": "Shinkawa Tomoyo, Tokita Serina, Nakatsugawa Munehide, Kikuchi Yasuhiro, Kanaseki Takayuki, Torigoe Toshihiko", "evidence": [ { "database": "IEDB", "id": "20767", "url": "https://www.iedb.org/epitope/20767" }, { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" } ], "reference": [ { "type": "PubMed", "id": "33537174", "url": "https://glygen.org/publication/PubMed/33537174" } ] }, { "title": "FBXL6 degrades phosphorylated p53 to promote tumor growth.", "journal": "Cell death and differentiation", "date": "2021", "authors": "Li Y, Cui K, Zhang Q, Li X, Lin X, Tang Y, Prochownik EV, Li Y", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33568778", "url": "https://glygen.org/publication/PubMed/33568778" } ] }, { "title": "The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer.", "journal": "Frontiers in oncology", "date": "2020", "authors": "Leeksma Alexander C, Derks Ingrid A M, Kasem M Haidar, Kilic Emine, de Klein Annelies, Jager Martine J, van de Loosdrecht Arjan A, Jansen Joop H, Navrkalova Veronika, Faber Laura M, Zaborsky Nadja, Egle Alexander, Zenz Thorsten, Pospisilova Sarka, Abdel-Wahab Omar, Kater Arnon P, Eldering Eric", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "33585229", "url": "https://glygen.org/publication/PubMed/33585229" } ] }, { "title": "DAZAP2 acts as specifier of the p53 response to DNA damage.", "journal": "Nucleic Acids Res.", "date": "2021", "authors": "Liebl MC, Moehlenbrink J, Becker H, Raddatz G, Abdeen SK, Aqeilan RI, Lyko F, Hofmann TG", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": 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against Listeria monocytogenes.", "journal": "Nature communications", "date": "2022-10-14", "authors": "Mayer Rupert L, Verbeke Rein, Asselman Caroline, Aernout Ilke, Gul Adillah, Eggermont Denzel, Boucher Katie, Thery Fabien, Maia Teresa M, Demol Hans, Gabriels Ralf, Martens Lennart, B\u00e9cavin Christophe, De Smedt Stefaan C, Vandekerckhove Bart, Lentacker Ine, Impens Francis", "evidence": [ { "database": "IEDB", "id": "1025009", "url": "https://www.iedb.org/epitope/1025009" } ], "reference": [ { "type": "PubMed", "id": "36241641", "url": "https://glygen.org/publication/PubMed/36241641" } ] }, { "title": "Direct identification of HLA class I and class II-restricted T cell epitopes in pancreatic cancer tissues by mass spectrometry.", "journal": "Journal of hematology & oncology", "date": "2022-10-25", "authors": "Fujiwara Kenji, Shao Yingkuan, Niu Nan, Zhang Tengyi, Herbst Brian, Henderson Mackenzie, Muth Stephen, Zhang Pingbo, Zheng Lei", "evidence": [ { "database": "IEDB", "id": 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Replication.", "journal": "Journal of virology", "date": "2022-11-23", "authors": "Deng Zhuofan, Sun Renjie, Han Xiao, Zhang Yikai, Zhou Yingshan, Shan Ying, Xu Jidong, Li Xiaoliang, He Fang, Fang Weihuan", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "36300938", "url": "https://glygen.org/publication/PubMed/36300938" } ] }, { "title": "Involvement of a AS3MT/c-Fos/p53 signaling axis in arsenic-induced tumor in human lung cells.", "journal": "Environmental toxicology", "date": "2022-11-18", "authors": "Sun Mingjun, Cheng Huirong, Yu Tianle, Tan Jingwen, Li Ming, Chen Qian, Gu Yun, Jiang Chenglan, Li Shuting, He Yuefeng, Wen Weihua", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "36399430", "url": "https://glygen.org/publication/PubMed/36399430" } ] }, { "title": "Phosphorylation and specific DNA improved the incorporation ability of p53 into functional condensates.", "journal": "International journal of biological macromolecules", "date": "2023-03-01", "authors": "Chen Qunyang, Wu Yiping, Dai Zhuojun, Zhang Zhuqing, Yang Xiaorong", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "36634798", "url": "https://glygen.org/publication/PubMed/36634798" } ] }, { "title": "Protein kinase R dependent phosphorylation of \u03b1-synuclein regulates its membrane binding and aggregation.", "journal": "PNAS nexus", "date": "2022-11", "authors": "Reimer Lasse, Gram Hjalte, Jensen Nanna M\u00f8ller, Betzer Cristine, Yang Li, Jin Lorrain, Shi Min, Boudeffa Driss, Fusco Giuliana, De Simone Alfonso, Kirik Deniz, Lashuel Hilal A, Zhang Jing, Jensen Poul Henning", "evidence": [ { "database": 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Chemistry", "date": "2020-09", "authors": "Wu Peng", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "37127961", "url": "https://glygen.org/publication/PubMed/37127961" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Targeting of intracellular oncoproteins with peptide-centric CARs.", "journal": "Nature", "date": "2023-11", "authors": "Yarmarkovich Mark, Marshall Quinlen F, Warrington John M, Premaratne Rasika, Farrel Alvin, Groff David, Li Wei, di Marco Moreno, Runbeck Erin, Truong Hau, Toor Jugmohit S, Tripathi Sarvind, Nguyen Son, Shen Helena, Noel Tiffany, Church Nicole L, Weiner Amber, Kendsersky Nathan, Martinez Dan, Weisberg Rebecca, Christie Molly, Eisenlohr Laurence, Bosse Kristopher R, Dimitrov Dimiter S, Stevanovic Stefan, Sgourakis Nikolaos G, Kiefel Ben R, Maris John M", "evidence": [ { "database": "IEDB", "id": "418624", "url": "https://www.iedb.org/epitope/418624" }, { "database": "IEDB", "id": "231861", "url": "https://www.iedb.org/epitope/231861" } ], "reference": [ { "type": "PubMed", "id": "37938771", "url": "https://glygen.org/publication/PubMed/37938771" } ] }, { "title": "Next-Generation Metabolic Glycosylation Reporters Enable Detection of Protein O-GlcNAcylation in Living Cells without S-Glyco Modification.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2024-05-13", "authors": "Kufleitner Markus, Haiber Lisa Maria, Li Shuang, Surendran Harsha, Mayer Thomas U, Zumbusch Andreas, Wittmann Valentin", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04637", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" } ], "reference": [ { "type": "PubMed", "id": "38501674", "url": "https://glygen.org/publication/PubMed/38501674" } ] }, { "title": "Alanyl-tRNA synthetase, AARS1, is a lactate sensor and lactyltransferase that lactylates p53 and contributes to tumorigenesis.", "journal": "Cell", "date": "2024-05-09", "authors": "Zong Zhi, Xie Feng, Wang Shuai, Wu Xiaojin, Zhang Zhenyu, Yang Bing, Zhou Fangfang", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "38653238", "url": "https://glygen.org/publication/PubMed/38653238" } ] }, { "title": "Neoantigen-specific stimulation of tumor-infiltrating lymphocytes enables effective TCR isolation and expansion while preserving stem-like memory phenotypes.", "journal": "Journal for immunotherapy of cancer", "date": "2024-05-30", "authors": "Levin Noam, Kim Sanghyun P, Marquardt Charles A, Vale Nolan R, Yu Zhiya, Sindiri Sivasish, Gartner Jared J, Parkhurst Maria, Krishna Sri, Lowery Frank J, Zacharakis Nikolaos, Levy Lior, Prickett Todd D, Benzine Tiffany, Ray Satyajit, Masi Robert V, Gasmi Billel, Li Yong, Islam Rafiqul, Bera Alakesh, Goff Stephanie L, Robbins Paul F, Rosenberg Steven A", "evidence": [ { "database": "IEDB", "id": "1125068", "url": "https://www.iedb.org/epitope/1125068" } ], "reference": [ { "type": "PubMed", "id": "38816232", "url": "https://glygen.org/publication/PubMed/38816232" } ] }, { "title": "Molecular cloning and in vitro expression of a cDNA clone for human cellular tumor antigen p53.", "journal": "Mol. Cell. Biol.", "date": "1985", "authors": "Harlow E, Williamson N M, Ralston R, Helfman D M, Adams T E", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "3894933", "url": "https://glygen.org/publication/PubMed/3894933" } ] }, { "title": "Human p53 cellular tumor antigen: cDNA sequence and expression in COS cells.", "journal": "EMBO J.", "date": "1985", "authors": "Zakut-Houri R, Bienz-Tadmor B, Givol D, Oren M", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "4006916", "url": "https://glygen.org/publication/PubMed/4006916" } ] }, { "title": "Enzymic properties of different types of human erythrocyte glucose-6-phosphate dehydrogenase, with characterization of two new genetic variants.", "journal": "The Journal of clinical investigation", "date": "1968", "authors": "Luzzatto L, Afolayan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "5666113", "url": "https://glygen.org/publication/PubMed/5666113" } ] }, { "title": "Isolation and characterization of a human p53 cDNA clone: expression of the human p53 gene.", "journal": "EMBO J.", "date": "1984", "authors": "Matlashewski G, Lamb P, Pim D, Peacock J, Crawford L, Benchimol S", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "6396087", "url": "https://glygen.org/publication/PubMed/6396087" } ] }, { "title": "HIV-1 Tat directly interacts with the interferon-induced, double-stranded RNA-dependent kinase, PKR.", "journal": "Virology", "date": "1995-11-10", "authors": "McMillan N A, Chun R F, Siderovski D P, Galabru J, Toone W M, Samuel C E, Mak T W, Hovanessian A G, Jeang K T, Williams B R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7491766", "url": "https://glygen.org/publication/PubMed/7491766" } ] }, { "title": "Characterization of cytotoxic T lymphocyte epitopes of a self-protein, p53, and a non-self-protein, influenza matrix: relationship between major histocompatibility complex peptide binding affinity and immune responsiveness to peptides.", "journal": "Journal of immunotherapy with emphasis on tumor immunology : official journal of the Society for Biological Therapy", "date": "1993-08", "authors": "Nijman H W, Houbiers J G, van der Burg S H, Vierboom M P, Kenemans P, Kast W M, Melief C J", "evidence": [ { "database": "IEDB", "id": "37364", "url": "https://www.iedb.org/epitope/37364" } ], "reference": [ { "type": "PubMed", "id": "7506574", "url": "https://glygen.org/publication/PubMed/7506574" } ] }, { "title": "Interferon activation of the transcription factor Stat91 involves dimerization through SH2-phosphotyrosyl peptide interactions.", "journal": "Cell", "date": "1994", "authors": "Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D, Darnell JE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7510216", "url": "https://glygen.org/publication/PubMed/7510216" } ] }, { "title": "Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway.", "journal": "Cell", "date": "1994", "authors": "Akira S, Nishio Y, Inoue M, Wang XJ, Wei S, Matsusaka T, Yoshida K, Sudo T, Naruto M, Kishimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7512451", "url": "https://glygen.org/publication/PubMed/7512451" } ] }, { "title": "TAR RNA-binding protein is an inhibitor of the interferon-induced protein kinase PKR.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994-05-24", "authors": "Park H, Davies M V, Langland J O, Chang H W, Nam Y S, Tartaglia J, Paoletti E, Jacobs B L, Kaufman R J, Venkatesan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7515177", "url": "https://glygen.org/publication/PubMed/7515177" } ] }, { "title": "IL-13 selectively induces vascular cell adhesion molecule-1 expression in human endothelial cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1995", "authors": "Bochner BS, Klunk DA, Sterbinsky SA, Coffman RL, Schleimer RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7529288", "url": "https://glygen.org/publication/PubMed/7529288" } ] }, { "title": "Regulation of the sequence-specific DNA binding function of p53 by protein kinase C and protein phosphatases.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Takenaka I, Morin F, Seizinger BR, Kley N", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "7534296", "url": "https://glygen.org/publication/PubMed/7534296" } ] }, { "title": "Pro-inflammatory cytokines and environmental stress cause p38 mitogen-activated protein kinase activation by dual phosphorylation on tyrosine and threonine.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Raingeaud J, Gupta S, Rogers JS, Dickens M, Han J, Ulevitch RJ, Davis RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "7535770", "url": "https://glygen.org/publication/PubMed/7535770" } ] }, { "title": "The interferon-inducible double-stranded RNA-activated protein kinase self-associates in vitro and in vivo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995-08-29", "authors": "Patel R C, Stanton P, McMillan N M, Williams B R, Sen G C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7545299", "url": "https://glygen.org/publication/PubMed/7545299" } ] }, { "title": "Expression and regulation by interferon of a double-stranded-RNA-specific adenosine deaminase from human cells: evidence for two forms of the deaminase.", "journal": "Molecular and cellular biology", "date": "1995-10", "authors": "Patterson J B, Samuel C E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7565688", "url": "https://glygen.org/publication/PubMed/7565688" } ] }, { "title": "Induction of the growth inhibitor IGF-binding protein 3 by p53.", "journal": "Nature", "date": "1995", "authors": "Buckbinder L, Talbott R, Velasco-Miguel S, Takenaka I, Faha B, Seizinger BR, Kley N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803211" } ], "reference": [ { "type": "PubMed", "id": "7566179", "url": "https://glygen.org/publication/PubMed/7566179" } ] }, { "title": "Metabolism of the polyubiquitin degradation signal: structure, mechanism, and role of isopeptidase T.", "journal": "Biochemistry", "date": "1995", "authors": "Wilkinson KD, Tashayev VL, O'Connor LB, Larsen CN, Kasperek E, Pickart CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "7578059", "url": "https://glygen.org/publication/PubMed/7578059" } ] }, { "title": "ERF: an ETS domain protein with strong transcriptional repressor activity, can suppress ets-associated tumorigenesis and is regulated by phosphorylation during cell cycle and mitogenic stimulation.", "journal": "The EMBO journal", "date": "1995", "authors": "Sgouras DN, Athanasiou MA, Beal GJ Jr, Fisher RJ, Blair DG, Mavrothalassitis GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559585", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559585" } ], "reference": [ { "type": "PubMed", "id": "7588608", "url": "https://glygen.org/publication/PubMed/7588608" } ] }, { "title": "The Mos/MAP kinase pathway stabilizes c-Fos by phosphorylation and augments its transforming activity in NIH 3T3 cells.", "journal": "The EMBO journal", "date": "1995", "authors": "Okazaki K, Sagata N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "7588633", "url": "https://glygen.org/publication/PubMed/7588633" } ] }, { "title": "Cdk2 kinase phosphorylates serine 315 of human p53 in vitro.", "journal": "Oncogene", "date": "1995", "authors": "Price BD, Hughes-Davies L, Park SJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "7624134", "url": "https://glygen.org/publication/PubMed/7624134" } ] }, { "title": "p53 alterations in human squamous cell carcinomas and carcinoma cell lines.", "journal": "The American journal of pathology", "date": "1993", "authors": "Caamano J, Zhang SY, Rosvold EA, Bauer B, Klein-Szanto AJ", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "7682763", "url": "https://glygen.org/publication/PubMed/7682763" } ] }, { "title": "Mapping of the p53 and mdm-2 interaction domains.", "journal": "Molecular and cellular biology", "date": "1993", "authors": "Chen J, Marechal V, Levine AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "7686617", "url": "https://glygen.org/publication/PubMed/7686617" } ] }, { "title": "Mechanism of interferon action: evidence for intermolecular autophosphorylation and autoactivation of the interferon-induced, RNA-dependent protein kinase PKR.", "journal": "Journal of virology", "date": "1993-12", "authors": "Thomis D C, Samuel C E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7693978", "url": "https://glygen.org/publication/PubMed/7693978" } ] }, { "title": "Nuclear localization of the interferon-inducible protein kinase PKR in human cells and transfected mouse cells.", "journal": "Experimental cell research", "date": "1995-05", "authors": "Jeffrey I W, Kadereit S, Meurs E F, Metzger T, Bachmann M, Schwemmle M, Hovanessian A G, Clemens M J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7737357", "url": "https://glygen.org/publication/PubMed/7737357" } ] }, { "title": "Solution structure of the tetrameric minimum transforming domain of p53.", "journal": "Nat. Struct. Biol.", "date": "1994", "authors": "Lee W, Harvey T S, Yin Y, Yau P, Litchfield D, Arrowsmith C H", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "7773777", "url": "https://glygen.org/publication/PubMed/7773777" } ] }, { "title": "Identification of p53 target genes through immune selection of genomic DNA: the cyclin G gene contains two distinct p53 binding sites.", "journal": "Oncogene", "date": "1995", "authors": "Zauberman A, Lupo A, Oren M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "7784084", "url": "https://glygen.org/publication/PubMed/7784084" } ] }, { "title": "Characterisation of the interaction between PCNA and Gadd45.", "journal": "Oncogene", "date": "1995", "authors": "Hall PA, Kearsey JM, Coates PJ, Norman DG, Warbrick E, Cox LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804114", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804114" } ], "reference": [ { "type": "PubMed", "id": "7784094", "url": "https://glygen.org/publication/PubMed/7784094" } ] }, { "title": "Direct evidence of a heterotrimeric complex of human interleukin-4 with its receptors.", "journal": "Protein science : a publication of the Protein Society", "date": "1995", "authors": "Hoffman RC, Castner BJ, Gerhart M, Gibson MG, Rasmussen BD, March CJ, Weatherbee J, Tsang M, Gustchina A, Schalk-Hihi C, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7795521", "url": "https://glygen.org/publication/PubMed/7795521" } ] }, { "title": "Components of a Stat recognition code: evidence for two layers of molecular selectivity.", "journal": "Immunity", "date": "1995", "authors": "Schindler U, Wu P, Rothe M, Brasseur M, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7796300", "url": "https://glygen.org/publication/PubMed/7796300" } ] }, { "title": "p53 oligomerization and DNA looping are linked with transcriptional activation.", "journal": "The EMBO journal", "date": "1994", "authors": "Stenger JE, Tegtmeyer P, Mayr GA, Reed M, Wang Y, Wang P, Hough PV, Mastrangelo IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7813439", "url": "https://glygen.org/publication/PubMed/7813439" } ] }, { "title": "Crystal structure of the heterodimeric bZIP transcription factor c-Fos-c-Jun bound to DNA.", "journal": "Nature", "date": "1995", "authors": "Glover JN, Harrison SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "7816143", "url": "https://glygen.org/publication/PubMed/7816143" } ] }, { "title": "Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Morris SW, Kirstein MN, Valentine MB, Dittmer K, Shapiro DN, Look AT, Saltman DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "7824924", "url": "https://glygen.org/publication/PubMed/7824924" } ] }, { "title": "Tumor suppressor p53 is a direct transcriptional activator of the human bax gene.", "journal": "Cell", "date": "1995", "authors": "Miyashita T, Reed JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803204", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803204" } ], "reference": [ { "type": "PubMed", "id": "7834749", "url": "https://glygen.org/publication/PubMed/7834749" } ] }, { "title": "Lack of cyclin D-Cdk complexes in Rb-negative cells correlates with high levels of p16INK4/MTS1 tumour suppressor gene product.", "journal": "The EMBO journal", "date": "1995", "authors": "Parry D, Bates S, Mann DJ, Peters G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "7859739", "url": "https://glygen.org/publication/PubMed/7859739" } ] }, { "title": "The dihedral symmetry of the p53 tetramerization domain mandates a conformational switch upon DNA binding.", "journal": "The EMBO journal", "date": "1995", "authors": "Waterman JL, Shenk JL, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7859740", "url": "https://glygen.org/publication/PubMed/7859740" } ] }, { "title": "Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms.", "journal": "Science", "date": "1995", "authors": "Jeffrey PD, Gorina S, Pavletich NP", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7878469", "url": "https://glygen.org/publication/PubMed/7878469" } ] }, { "title": "Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.", "journal": "American journal of human genetics", "date": "1995", "authors": "Frebourg T, Barbier N, Yan YX, Garber JE, Dreyfus M, Fraumeni J Jr, Li FP, Friend SH", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "7887414", "url": "https://glygen.org/publication/PubMed/7887414" } ] }, { "title": "Interaction of p53 with its consensus DNA-binding site.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Wang Y, Schwedes JF, Parks D, Mann K, Tegtmeyer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7891710", "url": "https://glygen.org/publication/PubMed/7891710" } ] }, { "title": "Transcriptional regulation of the junB promoter: analysis of STAT-mediated signal transduction.", "journal": "Oncogene", "date": "1995", "authors": "Coffer P, Lutticken C, van Puijenbroek A, Klop-de Jonge M, Horn F, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7898939", "url": "https://glygen.org/publication/PubMed/7898939" } ] }, { "title": "Organization of the double-stranded RNA-activated protein kinase DAI and virus-associated VA RNAI in adenovirus-2-infected HeLa cells.", "journal": "Journal of cell science", "date": "1993-09", "authors": "Jim\u00e9nez-Garc\u00eda L F, Green S R, Mathews M B, Spector D L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "7903669", "url": "https://glygen.org/publication/PubMed/7903669" } ] }, { "title": "Interleukin 13, an interleukin 4-like cytokine that acts on monocytes and B cells, but not on T cells.", "journal": "Immunology today", "date": "1994", "authors": "Zurawski G, de Vries JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7907877", "url": "https://glygen.org/publication/PubMed/7907877" } ] }, { "title": "The carboxy-terminal serine 392 phosphorylation site of human p53 is not required for wild-type activities.", "journal": "Oncogene", "date": "1994", "authors": "Fiscella M, Zambrano N, Ullrich SJ, Unger T, Lin D, Cho B, Mercer WE, Anderson CW, Appella E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "7936649", "url": "https://glygen.org/publication/PubMed/7936649" } ] }, { "title": "Cyclin G is a transcriptional target of the p53 tumor suppressor protein.", "journal": "The EMBO journal", "date": "1994", "authors": "Okamoto K, Beach D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "7957050", "url": "https://glygen.org/publication/PubMed/7957050" } ] }, { "title": "Interaction of the p53-regulated protein Gadd45 with proliferating cell nuclear antigen.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Smith ML, Chen IT, Zhan Q, Bae I, Chen CY, Gilmer TM, Kastan MB, O'Connor PM, Fornace AJ Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804114", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804114" } ], "reference": [ { "type": "PubMed", "id": "7973727", "url": "https://glygen.org/publication/PubMed/7973727" } ] }, { "title": "Energy transduction by cytochrome complexes in mitochondrial and bacterial respiration: the enzymology of coupling electron transfer reactions to transmembrane proton translocation.", "journal": "Annual review of biochemistry", "date": "1994", "authors": "Trumpower BL, Gennis RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "7979252", "url": "https://glygen.org/publication/PubMed/7979252" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Farnsworth CC, Seabra MC, Ericsson LH, Gelb MH, Glomset JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803205" } ], "reference": [ { "type": "PubMed", "id": "7991565", "url": "https://glygen.org/publication/PubMed/7991565" } ] }, { "title": "Growth suppression by p18, a p16INK4/MTS1- and p14INK4B/MTS2-related CDK6 inhibitor, correlates with wild-type pRb function.", "journal": "Genes & development", "date": "1994", "authors": "Guan KL, Jenkins CW, Li Y, Nichols MA, Wu X, O'Keefe CL, Matera AG, Xiong Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8001816", "url": "https://glygen.org/publication/PubMed/8001816" } ] }, { "title": "A temperature-sensitive mutant of human p53.", "journal": "The EMBO journal", "date": "1994", "authors": "Zhang W, Guo XY, Hu GY, Liu WB, Shay JW, Deisseroth AB", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8013454", "url": "https://glygen.org/publication/PubMed/8013454" } ] }, { "title": "Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.", "journal": "Science", "date": "1994", "authors": "Cho Y, Gorina S, Jeffrey P D, Pavletich N P", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8023157", "url": "https://glygen.org/publication/PubMed/8023157" } ] }, { "title": "High-resolution structure of the oligomerization domain of p53 by multidimensional NMR.", "journal": "Science", "date": "1994", "authors": "Clore G M, Omichinski J G, Sakaguchi K, Zambrano N, Sakamoto H, Appella E, Gronenborn A M", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8023159", "url": "https://glygen.org/publication/PubMed/8023159" } ] }, { "title": "p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest.", "journal": "Nature", "date": "1994", "authors": "Hannon GJ, Beach D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8078588", "url": "https://glygen.org/publication/PubMed/8078588" } ] }, { "title": "An interleukin-4-induced transcription factor: IL-4 Stat.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Hou J, Schindler U, Henzel WJ, Ho TC, Brasseur M, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8085155", "url": "https://glygen.org/publication/PubMed/8085155" } ] }, { "title": "Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.", "journal": "Cancer Res.", "date": "1994", "authors": "Birch J M, Hartley A L, Tricker K J, Prosser J, Condie A, Kelsey A M, Harris M, Jones P H, Binchy A, Crowther D", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8118819", "url": "https://glygen.org/publication/PubMed/8118819" } ] }, { "title": "Glucose-6-phosphate dehydrogenase: a `housekeeping` enzyme subject to tissue-specific regulation by hormones, nutrients, and oxidant stress.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1994", "authors": "Kletzien RF, Harris PK, Foellmi LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "8119488", "url": "https://glygen.org/publication/PubMed/8119488" } ] }, { "title": "Induction of apoptosis in fibroblasts by IL-1 beta-converting enzyme, a mammalian homolog of the C. elegans cell death gene ced-3.", "journal": "Cell", "date": "1993", "authors": "Miura M, Zhu H, Rotello R, Hartwieg EA, Yuan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803207" } ], "reference": [ { "type": "PubMed", "id": "8242741", "url": "https://glygen.org/publication/PubMed/8242741" } ] }, { "title": "The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases.", "journal": "Cell", "date": "1993", "authors": "Harper JW, Adami GR, Wei N, Keyomarsi K, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559586" } ], "reference": [ { "type": "PubMed", "id": "8242751", "url": "https://glygen.org/publication/PubMed/8242751" } ] }, { "title": "WAF1, a potential mediator of p53 tumor suppression.", "journal": "Cell", "date": "1993", "authors": "el-Deiry WS, Tokino T, Velculescu VE, Levy DB, Parsons R, Trent JM, Lin D, Mercer WE, Kinzler KW, Vogelstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559586" } ], "reference": [ { "type": "PubMed", "id": "8242752", "url": "https://glygen.org/publication/PubMed/8242752" } ] }, { "title": "A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4.", "journal": "Nature", "date": "1993", "authors": "Serrano M, Hannon GJ, Beach D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8259215", "url": "https://glygen.org/publication/PubMed/8259215" } ] }, { "title": "p53: at the crossroads of molecular carcinogenesis and risk assessment.", "journal": "Science", "date": "1993", "authors": "Harris C C", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8266092", "url": "https://glygen.org/publication/PubMed/8266092" } ] }, { "title": "Isolation of two cell lines from a human malignant glioma specimen differing in sensitivity to radiation and chemotherapeutic drugs.", "journal": "Radiation research", "date": "1993", "authors": "Allalunis-Turner MJ, Barron GM, Day RS 3rd, Dobler KD, Mirzayans R", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8316628", "url": "https://glygen.org/publication/PubMed/8316628" } ] }, { "title": "The p53-mdm-2 autoregulatory feedback loop.", "journal": "Genes & development", "date": "1993", "authors": "Wu X, Bayle JH, Olson D, Levine AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "8319905", "url": "https://glygen.org/publication/PubMed/8319905" } ] }, { "title": "Phosphorylation at Ser-15 and Ser-392 in mutant p53 molecules from human tumors is altered compared to wild-type p53.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Ullrich SJ, Sakaguchi K, Lees-Miller SP, Fiscella M, Mercer WE, Anderson CW, Appella E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "8327466", "url": "https://glygen.org/publication/PubMed/8327466" } ] }, { "title": "Efficient screening of p53 mutations by denaturing gradient gel electrophoresis in colorectal tumors.", "journal": "Oncogene", "date": "1993", "authors": "Hamelin R, Jego N, Laurent-Puig P, Vidaud M, Thomas G", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8336944", "url": "https://glygen.org/publication/PubMed/8336944" } ] }, { "title": "The incidence of p53 mutations increases with progression of head and neck cancer.", "journal": "Cancer Res.", "date": "1993", "authors": "Boyle J O, Hakim J, Koch W, van der Riet P, Hruban R H, Roa R A, Correo R, Eby Y J, Ruppert J M, Sidransky D", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8402617", "url": "https://glygen.org/publication/PubMed/8402617" } ] }, { "title": "Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53.", "journal": "Nature", "date": "1993", "authors": "Oliner JD, Pietenpol JA, Thiagalingam S, Gyuris J, Kinzler KW, Vogelstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "8479525", "url": "https://glygen.org/publication/PubMed/8479525" } ] }, { "title": "Mutation of the serine 15 phosphorylation site of human p53 reduces the ability of p53 to inhibit cell cycle progression.", "journal": "Oncogene", "date": "1993", "authors": "Fiscella M, Ullrich SJ, Zambrano N, Shields MT, Lin D, Lees-Miller SP, Anderson CW, Mercer WE, Appella E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "8502477", "url": "https://glygen.org/publication/PubMed/8502477" } ] }, { "title": "Ras-mediated phosphorylation of a conserved threonine residue enhances the transactivation activities of c-Ets1 and c-Ets2.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Yang BS, Hauser CA, Henkel G, Colman MS, Van Beveren C, Stacey KJ, Hume DA, Maki RA, Ostrowski MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559585", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559585" } ], "reference": [ { "type": "PubMed", "id": "8552081", "url": "https://glygen.org/publication/PubMed/8552081" } ] }, { "title": "The P58 cellular inhibitor complexes with the interferon-induced, double-stranded RNA-dependent protein kinase, PKR, to regulate its autophosphorylation and activity.", "journal": "The Journal of biological chemistry", "date": "1996-01-19", "authors": "Polyak S J, Tang N, Wambach M, Barber G N, Katze M G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "8576172", "url": "https://glygen.org/publication/PubMed/8576172" } ] }, { "title": "Double-stranded (ds) RNA binding and not dimerization correlates with the activation of the dsRNA-dependent protein kinase (PKR).", "journal": "The Journal of biological chemistry", "date": "1996-01-19", "authors": "Wu S, Kaufman R J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "8576179", "url": "https://glygen.org/publication/PubMed/8576179" } ] }, { "title": "Essential role of Stat6 in IL-4 signalling.", "journal": "Nature", "date": "1996", "authors": "Takeda K, Tanaka T, Shi W, Matsumoto M, Minami M, Kashiwamura S, Nakanishi K, Yoshida N, Kishimoto T, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8602263", "url": "https://glygen.org/publication/PubMed/8602263" } ] }, { "title": "STAT3 participates in transcriptional activation of the C-reactive protein gene by interleukin-6.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zhang D, Sun M, Samols D, Kushner I", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8621622", "url": "https://glygen.org/publication/PubMed/8621622" } ] }, { "title": "MKK3- and MKK6-regulated gene expression is mediated by the p38 mitogen-activated protein kinase signal transduction pathway.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Raingeaud J, Whitmarsh AJ, Barrett T, Derijard B, Davis RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8622669", "url": "https://glygen.org/publication/PubMed/8622669" } ] }, { "title": "3pK, a new mitogen-activated protein kinase-activated protein kinase located in the small cell lung cancer tumor suppressor gene region.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Sithanandam G, Latif F, Duh FM, Bernal R, Smola U, Li H, Kuzmin I, Wixler V, Geil L, Shrestha S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8622688", "url": "https://glygen.org/publication/PubMed/8622688" } ] }, { "title": "Identification of mitogen-activated protein (MAP) kinase-activated protein kinase-3, a novel substrate of CSBP p38 MAP kinase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "McLaughlin MM, Kumar S, McDonnell PC, Van Horn S, Lee JC, Livi GP, Young PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8626550", "url": "https://glygen.org/publication/PubMed/8626550" } ] }, { "title": "The human tumour suppressor gene p53 is alternatively spliced in normal cells.", "journal": "Oncogene", "date": "1996", "authors": "Flaman JM, Waridel F, Estreicher A, Vannier A, Limacher JM, Gilbert D, Iggo R, Frebourg T", "evidence": [ { 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Satoh H, Mori S, Yamamoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "8633037", "url": "https://glygen.org/publication/PubMed/8633037" } ] }, { "title": "Characterization of the heparin-mediated activation of PKR, the interferon-inducible RNA-dependent protein kinase.", "journal": "Virology", "date": "1996-07-01", "authors": "George C X, Thomis D C, McCormack S J, Svahn C M, Samuel C E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "8661426", "url": "https://glygen.org/publication/PubMed/8661426" } ] }, { "title": "Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning and expression of the recombinant enzyme.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Wilson MP, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "8662638", "url": "https://glygen.org/publication/PubMed/8662638" } ] }, { "title": "Cloning and characterization of a specific interleukin (IL)-13 binding protein structurally related to the IL-5 receptor alpha chain.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Caput D, Laurent P, Kaghad M, Lelias JM, Lefort S, Vita N, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8663118", "url": "https://glygen.org/publication/PubMed/8663118" } ] }, { "title": "The lipopolysaccharide-binding protein is a secretory class 1 acute-phase protein whose gene is transcriptionally activated by APRF/STAT/3 and other cytokine-inducible nuclear proteins.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Schumann RR, Kirschning CJ, Unbehaun A, Aberle HP, Knope HP, Lamping N, Ulevitch RJ, Herrmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8668165", "url": "https://glygen.org/publication/PubMed/8668165" } ] }, { "title": "Germline mutations in the TP53 gene.", "journal": "Cancer Surv.", "date": "1995", "authors": "Eeles R A", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8718514", "url": "https://glygen.org/publication/PubMed/8718514" } ] }, { "title": "Isolation and characterization of p19INK4d, a p16-related inhibitor specific to CDK6 and CDK4.", "journal": "Molecular biology of the cell", "date": "1996", "authors": "Guan KL, Jenkins CW, Li Y, O'Keefe CL, Noh S, Wu X, Zariwala M, Matera AG, Xiong Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8741839", "url": "https://glygen.org/publication/PubMed/8741839" } ] }, { "title": "A comparison of the substrate specificity of MAPKAP kinase-2 and MAPKAP kinase-3 and their activation by cytokines and cellular stress.", "journal": "FEBS letters", "date": "1996", "authors": "Clifton AD, Young PR, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8774846", "url": "https://glygen.org/publication/PubMed/8774846" } ] }, { "title": "Global and local determinants for the kinetics of interleukin-4/interleukin-4 receptor alpha chain interaction. A biosensor study employing recombinant interleukin-4-binding protein.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Shen BJ, Hage T, Sebald W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8797861", "url": "https://glygen.org/publication/PubMed/8797861" } ] }, { "title": "Specific mutations near the amino terminus of double-stranded RNA-dependent protein kinase (PKR) differentially affect its double-stranded RNA binding and dimerization properties.", "journal": "The Journal of biological chemistry", "date": "1996-10-11", "authors": "Patel R C, Stanton P, Sen G C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "8810342", "url": "https://glygen.org/publication/PubMed/8810342" } ] }, { "title": "NF-E2 disrupts chromatin structure at human beta-globin locus control region hypersensitive site 2 in vitro.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Armstrong JA, Emerson BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "8816476", "url": "https://glygen.org/publication/PubMed/8816476" } ] }, { "title": "Requirements for interleukin-4-induced gene expression and functional characterization of Stat6.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Mikita T, Campbell D, Wu P, Williamson K, Schindler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8816495", "url": "https://glygen.org/publication/PubMed/8816495" } ] }, { "title": "An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.", "journal": "Journal of medical genetics", "date": "1995", "authors": "Varley JM, McGown G, Thorncroft M, Tricker KJ, Teare MD, Santibanez-Koref MF, Martin J, Birch JM, Evans DG", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8825920", "url": "https://glygen.org/publication/PubMed/8825920" } ] }, { "title": "Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.", "journal": "Human mutation", "date": "1996", "authors": "Audrezet MP, Robaszkiewicz M, Mercier B, Nousbaum JB, Hardy E, Bail JP, Volant A, Lozac'h P, Gouerou H, Ferec C", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8829627", "url": "https://glygen.org/publication/PubMed/8829627" } ] }, { "title": "Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses.", "journal": "Hum. Mutat.", "date": "1996", "authors": "De Vries E M, Ricke D O, De Vries T N, Hartmann A, Blaszyk H, Liao D, Soussi T, Kovach J S, Sommer S S", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8829653", "url": "https://glygen.org/publication/PubMed/8829653" } ] }, { "title": "Identification of novel phosphorylation sites required for activation of MAPKAP kinase-2.", "journal": "The EMBO journal", "date": "1995", "authors": "Ben-Levy R, Leighton IA, Doza YN, Attwood P, Morrice N, Marshall CJ, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8846784", "url": "https://glygen.org/publication/PubMed/8846784" } ] }, { "title": "Structure of the p53 tumor suppressor bound to the ankyrin and SH3 domains of 53BP2.", "journal": "Science", "date": "1996", "authors": "Gorina S, Pavletich N P", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8875926", "url": "https://glygen.org/publication/PubMed/8875926" } ] }, { "title": "Structure of the MDM2 oncoprotein bound to the p53 tumor suppressor transactivation domain.", "journal": "Science", "date": "1996", "authors": "Kussie P H, Gorina S, Marechal V, Elenbaas B, Moreau J, Levine A J, Pavletich N P", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "8875929", "url": "https://glygen.org/publication/PubMed/8875929" } ] }, { "title": "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.", "journal": "Nature", "date": "1996", "authors": "Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cecillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1912408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1912408" } ], "reference": [ { "type": "PubMed", "id": "8878478", "url": "https://glygen.org/publication/PubMed/8878478" } ] }, { "title": "p53-dependent association between cyclin G and the B' subunit of protein phosphatase 2A.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Okamoto K, Kamibayashi C, Serrano M, Prives C, Mumby MC, Beach D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "8887688", "url": "https://glygen.org/publication/PubMed/8887688" } ] }, { "title": "The 58-kDa cellular inhibitor of the double stranded RNA-dependent protein kinase requires the tetratricopeptide repeat 6 and DnaJ motifs to stimulate protein synthesis in vivo.", "journal": "The Journal of biological chemistry", "date": "1996-11-08", "authors": "Tang N M, Ho C Y, Katze M G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "8910500", "url": "https://glygen.org/publication/PubMed/8910500" } ] }, { "title": "Identification of a RING protein that can interact in vivo with the BRCA1 gene product.", "journal": "Nature genetics", "date": "1996", "authors": "Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang LY, Bowcock AM, Baer R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "8944023", "url": "https://glygen.org/publication/PubMed/8944023" } ] }, { "title": "Identification of BTG2, an antiproliferative p53-dependent component of the DNA damage cellular response pathway.", "journal": "Nature genetics", "date": "1996", "authors": "Rouault JP, Falette N, Guehenneux F, Guillot C, Rimokh R, Wang Q, Berthet C, Moyret-Lalle C, Savatier P, Pain B, Shaw P, Berger R, Samarut J, Magaud JP, Ozturk M, Samarut C, Puisieux A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804115", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804115" } ], "reference": [ { "type": "PubMed", "id": "8944033", "url": "https://glygen.org/publication/PubMed/8944033" } ] }, { "title": "Structure and chromosomal assignment of the human cyclin G gene.", "journal": "Genomics", "date": "1996", "authors": "Endo Y, Fujita T, Tamura K, Tsuruga H, Nojima H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804757" } ], "reference": [ { "type": "PubMed", "id": "8954786", "url": "https://glygen.org/publication/PubMed/8954786" } ] }, { "title": "Chemical synthesis of phosphorylated peptides of the carboxy-terminal domain of human p53 by a segment condensation method.", "journal": "International journal of peptide and protein research", "date": "1996", "authors": "Sakamoto H, Kodama H, Higashimoto Y, Kondo M, Lewis MS, Anderson CW, Appella E, Sakaguchi K", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "8956076", "url": "https://glygen.org/publication/PubMed/8956076" } ] }, { "title": "Induction of apoptosis by ASK1, a mammalian MAPKKK that activates SAPK/JNK and p38 signaling pathways.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Ichijo H, Nishida E, Irie K, ten Dijke P, Saitoh M, Moriguchi T, Takagi M, Matsumoto K, Miyazono K, Gotoh Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8974401", "url": "https://glygen.org/publication/PubMed/8974401" } ] }, { "title": "Cloning of the human IL-13R alpha1 chain and reconstitution with the IL4R alpha of a functional IL-4/IL-13 receptor complex.", "journal": "FEBS letters", "date": "1997", "authors": "Miloux B, Laurent P, Bonnin O, Lupker J, Caput D, Vita N, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9013879", "url": "https://glygen.org/publication/PubMed/9013879" } ] }, { "title": "Regulatory mechanisms involved in activator-protein-1 (AP-1)-mediated activation of glutathione-S-transferase gene expression by chemical agents.", "journal": "European journal of biochemistry", "date": "1997", "authors": "Ainbinder E, Bergelson S, Pinkus R, Daniel V", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "9030721", "url": "https://glygen.org/publication/PubMed/9030721" } ] }, { "title": "Oncogenic potential of TAR RNA binding protein TRBP and its regulatory interaction with RNA-dependent protein kinase PKR.", "journal": "The EMBO journal", "date": "1997-02-03", "authors": "Benkirane M, Neuveut C, Chun R F, Smith S M, Samuel C E, Gatignol A, Jeang K T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "9034343", "url": "https://glygen.org/publication/PubMed/9034343" } ] }, { "title": "Susceptibility to ankylosing spondylitis correlates with the C-terminal residue of peptides presented by various HLA-B27 subtypes.", "journal": "European journal of immunology", "date": "1997-02", "authors": "Fiorillo M T, Meadows L, D'Amato M, Shabanowitz J, Hunt D F, Appella E, Sorrentino R", "evidence": [ { "database": "IEDB", "id": "22154", "url": "https://www.iedb.org/epitope/22154" } ], "reference": [ { "type": "PubMed", "id": "9045906", "url": "https://glygen.org/publication/PubMed/9045906" } ] }, { "title": "p53 activates Fanconi anemia group C gene expression.", "journal": "Human molecular genetics", "date": "1997", "authors": "Liebetrau W, Budde A, Savoia A, Grummt F, Hoehn H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "9063748", "url": "https://glygen.org/publication/PubMed/9063748" } ] }, { "title": "Identification of a novel protein kinase A anchoring protein that binds both type I and type II regulatory subunits.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9065479", "url": "https://glygen.org/publication/PubMed/9065479" } ] }, { "title": "The Tat protein of human immunodeficiency virus type 1 is a substrate and inhibitor of the interferon-induced, virally activated protein kinase, PKR.", "journal": "The Journal of biological chemistry", "date": "1997-03-28", "authors": "Brand S R, Kobayashi R, Mathews M B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "9079663", "url": "https://glygen.org/publication/PubMed/9079663" } ] }, { "title": "Single-step DGGE-based mutation scanning of the p53 gene: application to genetic diagnosis of colorectal cancer.", "journal": "Hum. Mutat.", "date": "1997", "authors": "Guldberg P, Nedergaard T, Nielsen H J, Olsen A C, Ahrenkiel V, Zeuthen J", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "9101296", "url": "https://glygen.org/publication/PubMed/9101296" } ] }, { "title": "Oligomerization is not essential for growth suppression by p53 in p53-deficient osteosarcoma Saos-2 cells.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Ishioka C, Shimodaira H, Englert C, Shimada A, Osada M, Jia LQ, Suzuki T, Gamo M, Kanamaru R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9723905", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9723905" } ], "reference": [ { "type": "PubMed", "id": "9125151", "url": "https://glygen.org/publication/PubMed/9125151" } ] }, { "title": "Characterization of the mitogen-activated protein kinase kinase 4 (MKK4)/c-Jun NH2-terminal kinase 1 and MKK3/p38 pathways regulated by MEK kinases 2 and 3. MEK kinase 3 activates MKK3 but does not cause activation of p38 kinase in vivo.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Deacon K, Blank JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "9162092", "url": "https://glygen.org/publication/PubMed/9162092" } ] }, { "title": "Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation.", "journal": "Nature", "date": "1997", "authors": "Baskaran R, Wood LD, Whitaker LL, Canman CE, Morgan SE, Xu Y, Barlow C, Baltimore D, Wynshaw-Boris A, Kastan MB, Wang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "9168116", "url": "https://glygen.org/publication/PubMed/9168116" } ] }, { "title": "The in vitro phosphorylation of p53 by calcium-dependent protein kinase C--characterization of a protein-kinase-C-binding site on p53.", "journal": "European journal of biochemistry", "date": "1997", "authors": "Delphin C, Huang KP, Scotto C, Chapel A, Vincon M, Chambaz E, Garin J, Baudier J", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "9183006", "url": "https://glygen.org/publication/PubMed/9183006" } ] }, { "title": "Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.", "journal": "The EMBO journal", "date": "1997", "authors": "Spengler D, Villalba M, Hoffmann A, Pantaloni C, Houssami S, Bockaert J, Journot L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804115", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804115" } ], "reference": [ { "type": "PubMed", "id": "9184226", "url": "https://glygen.org/publication/PubMed/9184226" } ] }, { "title": "A novel mechanism of JNK1 activation. Nuclear translocation and activation of JNK1 during ischemia and reperfusion.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Mizukami Y, Yoshioka K, Morimoto S, Yoshida Ki", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "9195981", "url": "https://glygen.org/publication/PubMed/9195981" } ] }, { "title": "FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation.", "journal": "Cell", "date": "1997", "authors": "Tsang AP, Visvader JE, Turner CA, Fujiwara Y, Yu C, Weiss MJ, Crossley M, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9230307", "url": "https://glygen.org/publication/PubMed/9230307" } ] }, { "title": "Effect of phosphorylation on tetramerization of the tumor suppressor protein p53.", "journal": "Journal of protein chemistry", "date": "1997", "authors": "Sakaguchi K, Sakamoto H, Xie D, Erickson JW, Lewis MS, Anderson CW, Appella E", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9246643", "url": "https://glygen.org/publication/PubMed/9246643" } ] }, { "title": "Phosphorylation of serine 392 stabilizes the tetramer formation of tumor suppressor protein p53.", "journal": "Biochemistry", "date": "1997", "authors": "Sakaguchi K, Sakamoto H, Lewis MS, Anderson CW, Erickson JW, Appella E, Xie D", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9254608", "url": "https://glygen.org/publication/PubMed/9254608" } ] }, { "title": "The CDK7-cycH-p36 complex of transcription factor IIH phosphorylates p53, enhancing its sequence-specific DNA binding activity in vitro.", "journal": "Molecular and cellular biology", "date": "1997", "authors": "Lu H, Fisher RP, Bailey P, Levine AJ", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9315650", "url": "https://glygen.org/publication/PubMed/9315650" } ] }, { "title": "Hydrophobic side-chain size is a determinant of the three-dimensional structure of the p53 oligomerization domain.", "journal": "EMBO J.", "date": "1997", "authors": "McCoy M, Stavridi E S, Waterman J L, Wieczorek A M, Opella S J, Halazonetis T D", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "9321402", "url": "https://glygen.org/publication/PubMed/9321402" } ] }, { "title": "D-AKAP2, a novel protein kinase A anchoring protein with a putative RGS domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9326583", "url": "https://glygen.org/publication/PubMed/9326583" } ] }, { "title": "KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene.", "journal": "Nature genetics", "date": "1997", "authors": "Wu GS, Burns TF, McDonald ER 3rd, Jiang W, Meng R, Krantz ID, Kao G, Gan DD, Zhou JY, Muschel R, Hamilton SR, Spinner NB, Markowitz S, Wu G, el-Deiry WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803211" } ], "reference": [ { "type": "PubMed", "id": "9326928", "url": "https://glygen.org/publication/PubMed/9326928" } ] }, { "title": "Vertebrates have conserved capping protein alpha isoforms with specific expression patterns.", "journal": "Cell motility and the cytoskeleton", "date": "1997", "authors": "Hart MC, Korshunova YO, Cooper JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9331217", "url": "https://glygen.org/publication/PubMed/9331217" } ] }, { "title": "DNA damage-induced phosphorylation of p53 alleviates inhibition by MDM2.", "journal": "Cell", "date": "1997", "authors": "Shieh SY, Ikeda M, Taya Y, Prives C", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9363941", "url": "https://glygen.org/publication/PubMed/9363941" } ] }, { "title": "p53 is phosphorylated by CDK7-cyclin H in a p36MAT1-dependent manner.", "journal": "Molecular and cellular biology", "date": "1997", "authors": "Ko LJ, Shieh SY, Chen X, Jayaraman L, Tamai K, Taya Y, Prives C, Pan ZQ", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9372954", "url": "https://glygen.org/publication/PubMed/9372954" } ] }, { "title": "JNK1, JNK2 and JNK3 are p53 N-terminal serine 34 kinases.", "journal": "Oncogene", "date": "1997", "authors": "Hu MC, Qiu WR, Wang YP", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9393873", "url": "https://glygen.org/publication/PubMed/9393873" } ] }, { "title": "DNA damage induces phosphorylation of the amino terminus of p53.", "journal": "Genes & development", "date": "1997", "authors": "Siliciano JD, Canman CE, Taya Y, Sakaguchi K, Appella E, Kastan MB", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9407038", "url": "https://glygen.org/publication/PubMed/9407038" } ] }, { "title": "Drastic genetic instability of tumors and normal tissues in Turcot syndrome.", "journal": "Oncogene", "date": "1997", "authors": "Miyaki M, Nishio J, Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Nagato M, Chong JM, Koike M, Terada T, Kawahara Y, Fukutome A, Tomiyama J, Chuganji Y, Momoi M, Utsunomiya J", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "9419979", "url": "https://glygen.org/publication/PubMed/9419979" } ] }, { "title": "Structure of IRF-1 with bound DNA reveals determinants of interferon regulation.", "journal": "Nature", "date": "1998", "authors": "Escalante CR, Yie J, Thanos D, Aggarwal AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9422515", "url": "https://glygen.org/publication/PubMed/9422515" } ] }, { "title": "DNA-dependent protein kinase interacts with antigen receptor response element binding proteins NF90 and NF45.", "journal": "The Journal of biological chemistry", "date": "1998-01-23", "authors": "Ting N S, Kao P N, Chan D W, Lintott L G, Lees-Miller S P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "9442054", "url": "https://glygen.org/publication/PubMed/9442054" } ] }, { "title": "Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.", "journal": "Human mutation", "date": "1998", "authors": "van Rensburg EJ, Engelbrecht S, van Heerden WF, Kotze MJ, Raubenheimer EJ", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "9450901", "url": "https://glygen.org/publication/PubMed/9450901" } ] }, { "title": "A germline missense mutation R337C in exon 10 of the human p53 gene.", "journal": "Human mutation", "date": "1998", "authors": "Luca JW, Strong LC, Hansen MF", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "reference": [ { "type": "PubMed", "id": "9452042", "url": "https://glygen.org/publication/PubMed/9452042" } ] }, { "title": "Fine mapping and regulation of the association of p53 with p34cdc2.", "journal": "Oncogene", "date": "1998", "authors": "Wagner P, Fuchs A, Gotz C, Nastainczyk W, Montenarh M", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9467949", "url": "https://glygen.org/publication/PubMed/9467949" } ] }, { "title": "DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rogakou EP, Pilch DR, Orr AH, Ivanova VS, Bonner WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693565" } ], "reference": [ { "type": "PubMed", "id": "9488723", "url": "https://glygen.org/publication/PubMed/9488723" } ] }, { "title": "Ultrastructural localization of interferon-inducible double-stranded RNA-activated enzymes in human cells.", "journal": "Experimental cell research", "date": "1998-03-15", "authors": "Besse S, Rebouillat D, Marie I, Puvion-Dutilleul F, Hovanessian A G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "9521856", "url": "https://glygen.org/publication/PubMed/9521856" } ] }, { "title": "Autophosphorylation in the activation loop is required for full kinase activity in vivo of human and yeast eukaryotic initiation factor 2alpha kinases PKR and GCN2.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Romano PR, Garcia-Barrio MT, Zhang X, Wang Q, Taylor DR, Zhang F, Herring C, Mathews MB, Qin J, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "9528799", "url": "https://glygen.org/publication/PubMed/9528799" } ] }, { "title": "ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways.", "journal": "Cell", "date": "1998", "authors": "Zhang Y, Xiong Y, Yarbrough WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "9529249", "url": "https://glygen.org/publication/PubMed/9529249" } ] }, { "title": "Mammalian thioredoxin is a direct inhibitor of apoptosis signal-regulating kinase (ASK) 1.", "journal": "The EMBO journal", "date": "1998", "authors": "Saitoh M, Nishitoh H, Fujii M, Takeda K, Tobiume K, Sawada Y, Kawabata M, Miyazono K, Ichijo H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "9564042", "url": "https://glygen.org/publication/PubMed/9564042" } ] }, { "title": "Regulation of the p53 protein by protein kinase C alpha and protein kinase C zeta.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Youmell M, Park SJ, Basu S, Price BD", "evidence": [ { "database": "iPTMnet", "id": "P04637-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637-1" } ], "reference": [ { "type": "PubMed", "id": "9571186", "url": "https://glygen.org/publication/PubMed/9571186" } ] }, { "title": "ATM-dependent activation of p53 involves dephosphorylation and association with 14-3-3 proteins.", "journal": "Nature genetics", "date": "1998", "authors": "Waterman MJ, Stavridi ES, Waterman JL, Halazonetis TD", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" } ], "reference": [ { "type": "PubMed", "id": "9620776", "url": "https://glygen.org/publication/PubMed/9620776" } ] }, { "title": "PRAK, a novel protein kinase regulated by the p38 MAP kinase.", "journal": "The EMBO journal", "date": "1998", "authors": "New L, Jiang Y, Zhao M, Liu K, Zhu W, Flood LJ, Kato Y, Parry GC, Han J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": 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