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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 GeneticVariation disease BEFREE Our results for the first time suggest that IDH gene polymorphisms may serve as an independent prognostic marker for HCC patients treated with TACE. 25355558 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 GeneticVariation disease BEFREE Presence of IDH1 mutation was related with poor survival in clear cell HCC patients (P = 0.004). 28403884 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 GeneticVariation disease BEFREE K19<sup>+</sup> HCC had TERT promoter mutations less frequently than K19<sup>-</sup> HCC (31% versus 59%; P = 0.022), and lacked alterations in KRAS and IDH1. 31017316 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 GeneticVariation disease BEFREE In this study, 17 SNPs in seven genes encoding three TCA cycle enzyme families (SDH, FH, and IDH) were genotyped in 492 HCC patients with surgical treatment and their association with overall survival (OS) was analyzed. 25081338 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 Biomarker disease CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 Biomarker disease BEFREE Our negative results, together with some previous reports of the absence of IDH1 p.R132 mutations in HCC tissues, suggests that IDH1 p.R132 mutations are not actively involved in the development of HCC. 24531386 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.470 Biomarker disease BEFREE Rat liver and hepatoma AS-30D cytosolic fractions exhibited greater Vmax for IDH-1 than for Glc6PDH and 6PGDH whereas human cancer cells and platelets showed greater Vmax for Glc6PDH than for 6PGDH and IDH-1. 28739529 2017