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: C0007097
Disease: Carcinoma
Carcinoma
0.030 GeneticVariation group BEFREE This study indicates that IHC is a reliable method for the pathologic identification of the IDH1 mutation in solid human cancers such as prostate carcinomas. 23235339 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.030 GeneticVariation group BEFREE Although mutations in the metabolic enzyme IDH1 were rare in the other common gastrointestinal malignancies in this series (2%), they were found in three tumors (25%) of an initial series of 12 biliary tract carcinomas. 22180306 2012
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.030 GeneticVariation group BEFREE We found four IDH1 codon 132 mutations in the GBM (4/25; 16.0%), two in the prostate carcinomas (2/75; 2.7%) and one in the B-acute lymphoblastic leukemias (B-ALL) (1/60; 1.7%), but none in other cancers. 19378339 2009