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

N. diseases: 399; N. variants: 10
Disease: Glioblastoma Multiforme ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 Biomarker disease HPO
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 CausalMutation disease CGI
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE Mutations in IDH1 occurred in a large fraction of young patients and in most patients with secondary GBMs and were associated with an increase in overall survival. 18772396 2008
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM. 19117336 2009
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE The data indicate that IDH1 codon 132 mutations occur not only in GBM, but also in prostate cancers and B-ALL. 19378339 2009
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 AlteredExpression disease BEFREE The total NADPH production capacity in glioblastoma was provided for 65% by IDH activity and the occurrence of IDH1 (R132 ) mutation reduced this capacity by 38%. 20127344 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 Biomarker disease BEFREE Mutations in the genes for isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) have been recently identified in glioblastoma. 20171178 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE Another mitochondrial and TCA cycle-related protein, isocitrate dehydrogenase 2 is, together with IDH1, frequently mutated in the brain tumour glioblastoma. 20304625 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 Biomarker disease BEFREE We identified 26 TP53 wild-type and 9 TP53 mutated treatment-naïve, primary, isocitrate dehydrogenase 1 (IDH1) wild-type glioblastoma specimens by sequence analysis and quantified vascularization. 20504876 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation. 20560678 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE The systematic sequencing of glioblastoma multiforme (GBM) genomes has identified the recurrent mutation of IDH1, a gene encoding NADP(+)-dependent isocitrate dehydrogenase 1 (IDH1) that catalyzes the oxidative decarboxylation of isocitrate yielding alpha-ketoglutarate (alpha-KG). 20692206 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE 1p/19q codeletion and IDH1 mutations are also useful to support and extend the histological classification of gliomas since they are strongly linked to oligodendroglial morphology and grade II/III gliomas, as opposed to glioblastoma, respectively. 20862485 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE The discovery of somatic mutations in the isocitrate dehydrogenase (IDH) enzymes through a genome-wide mutational analysis in glioblastoma represents a milestone event in cancer biology. 20972461 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 AlteredExpression disease BEFREE Therefore, we inhibited glutaminase with siRNA or the small molecule inhibitor bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide (BPTES) and found slowed growth of glioblastoma cells expressing mutant IDH1 compared with those expressing wild-type IDH1. 21045145 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE The sequence from more favorable to poorer outcome was (1) anaplastic astrocytoma with IDH1 mutation, (2) glioblastoma with IDH1 mutation, (3) anaplastic astrocytoma without IDH1 mutation and (4) glioblastoma without IDH1 mutation (p < 0.0001). 21088844 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 Biomarker disease BEFREE Recent examples of NGS application to cancer genomes include the sequencing of 22 cases of glioblastoma multiforme that identified IDH1, the gene encoding isocitrate dehydrogenase 1, as target for cancer-driving mutations. 21119514 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE Recent advances in clinical medicine have elucidated two significantly different subtypes of glioblastoma which carry very different prognoses, both defined by mutations in isocitrate dehydrogenase-1 (IDH-1). 21301070 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE No significant difference was observed in the frequency of amplification of these genes in primary and secondary glioblastomas or in glioblastomas with and without IDH1 mutations, suggesting that amplification of PDGFRA, KIT and KDR may be implicated in the pathogenesis of a small fraction of both subtypes of glioblastoma. 21382095 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE IDH1/2 mutations are the most significant predictor of favorable outcome of glioblastoma patients. 21442241 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE Some findings, such as that of IDH mutation in low-grade gliomas and secondary glioblastoma (GBM), fit well into established notions of different routes of gliomagenesis. 21465149 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE It is concluded that rodents are a poor model to study consequences of the IDH1(R132) mutation in glioblastoma. 21527585 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE In addition, the method identified a known synthetic lethal interaction between TP53 and PLK1, other potential synthetic lethal interactions with TP53, and correlations between IDH1 mutation status and the overexpression of known GBM survival genes. 21555372 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 GeneticVariation disease BEFREE However, the interest on metabolism has been recently renewed by the discovery of recurrent mutation of IDH1 genes by systematic sequencing of a glioblastoma series. 21885076 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.500 Biomarker disease BEFREE Prognostic significance of IDH-1 and MGMT in patients with glioblastoma: one step forward, and one step back? 21910919 2011