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: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE However, an effective therapy against IDH1-mutated solid tumor remains unavailable. 31548295 2020
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE Clinical pharmacokinetics and pharmacodynamics of ivosidenib, an oral, targeted inhibitor of mutant IDH1, in patients with advanced solid tumors. 31028664 2020
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE Mutations in IDH1 and IDH2 genes occur frequently in myeloid malignancies and certain solid tumors. 30958073 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE IDH1 mutations have been described in an array of hematologic malignancies and solid tumors. 29670690 2018
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE In this review, we provide an overview of mutant IDH-targeted therapy and discuss a number of important recent pre-clinical studies using models of IDH-mutant solid tumors. 29805076 2018
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE Other than brain tumor or hematologic malignancies, intrahepatic cholangiocarcinoma (iCC) is a well-known solid tumor with IDH1 mutation (6.8-20%). 28403884 2017
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE Phase I studies of mutant IDH inhibitors are currently ongoing in patients with IDH-mutant hematologic and solid tumors, with early data in hematologic tumors suggesting a manageable safety profile as well as clinical benefit, with a mechanism of action based on differentiation of malignant cells. 27005468 2016
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE Since RCG is enhanced at hypoxia (frequent in solid tumors) and 2HG can be formed without idh1/2 mutations, we suggest 2HG as an analytic marker (in serum, urine, or biopsies) predicting malignancy of breast cancer in all patients. 26007236 2015
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE The role of mutant IDH in controlling hepatic differentiation state suggests the potential of newly developed inhibitors of the mutant enzyme as a form of differentiation therapy in a solid tumor. 25485496 2014
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 GeneticVariation phenotype BEFREE We identified IDH1 mutations in 10/24 (42%) cases, which also included a solid tumor portion (type 2 GC), but not in 11 "classical" cases without solid tumor mass (type 1 GC). 20514489 2010
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.100 Biomarker phenotype BEFREE IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. 19117336 2009