IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 CausalMutation disease CGI
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 GeneticVariation disease BEFREE Thus, IDH1 mutation is a molecular feature of cholangiocarcinomas of intrahepatic origin. 22180306 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 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
0.600 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
0.600 GeneticVariation disease BEFREE Tumors with IDH1 or IDH2 mutations may represent a distinct subtype of cholangiocarcinomas. 24569570 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 Biomarker disease BEFREE An example is the identification of arginine missense mutations of isocitrate dehydrogenases-1 and -2 (IDH1/2) in glioma, acute myeloid leukemia (AML), chondrosarcomas, and cholangiocarcinoma. 25787993 2015
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 Biomarker disease BEFREE Finally, in somatic mutation analysis, tumor-normal paired 14 tissue and 6 bile samples were analyzed, genomic alterations of EGFR, FGFR1, ABL1, PIK3CA, and CDKN2A gene were seen in the diffusely infiltrating type CC, and TP53, KRAS, APC, GNA11, ERBB4, ATM, SMAD4, BRAF, and IDH1 were altered in the mass-forming type CC group. 27460275 2016
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 Biomarker disease BEFREE Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. 28297679 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 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
0.600 GeneticVariation disease BEFREE Hepatocellular carcinoma and choangiocarcinoma display heterogeneity at both morphologic and molecular levels Cholangiocellular carcinoma is most commonly associated with IDH 1/2 mutations. 29776636 2018
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 GeneticVariation disease BEFREE Safety and activity of ivosidenib in patients with IDH1-mutant advanced cholangiocarcinoma: a phase 1 study. 31300360 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.600 GeneticVariation disease BEFREE Ivosidenib (AG-120) is a targeted mutant IDH1 inhibitor under evaluation in a phase 1 dose escalation and expansion study of IDH1-mutant advanced solid tumors including cholangiocarcinoma, chondrosarcoma, and glioma. 31028664 2020