IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 GeneticVariation disease BEFREE For example, IDH catalytic site mutations and constitutively active FGFR2 fusion genes are predominantly identified in iCCA, whereas KRAS mutations and PRKACB fusions genes are identified in pCCA and dCCA. 28844952 2018
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 Biomarker disease BEFREE Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. 28297679 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 GeneticVariation disease BEFREE Tumors with IDH1 or IDH2 mutations may represent a distinct subtype of cholangiocarcinomas. 24569570 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 GeneticVariation disease BEFREE Mutations in the IDH1 and IDH2 (isocitrate dehydrogenase) genes have been discovered across a range of solid-organ and hematologic malignancies, including acute myeloid leukemia, glioma, chondrosarcoma, and cholangiocarcinoma. 24760710 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 GeneticVariation disease BEFREE Isocitrate dehydrogenase (IDH) genes 1 and 2 are frequently mutated in acute myeloid leukaemia (AML), low-grade glioma, cholangiocarcinoma (CC) and chondrosarcoma (CS). 23863747 2013
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 Biomarker disease CTD_human Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. 24185509 2013
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 Biomarker disease BEFREE Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. 22180306 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.560 CausalMutation disease CGI