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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 CausalMutation group CGI
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. 20160062 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias. 22343896 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE IDH mutation screening is rapidly becoming part of the routine pathological work up of human brain tumors, providing both diagnostic and prognostic information. 23307057 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Acquired somatic mutations of IDH1 and IDH2 have recently been reported in some types of brain tumors and a small proportion of acute myeloid leukemia (AML) cases. 22397365 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group CLINVAR An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. 23558169 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group 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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Arch Pathol Lab Med 138:241-256, 2014) in addition to serving as surrogate markers for molecular alterations in neoplasms, including IDH1 and ATRX mutations in brain tumors (Appin CL, Brat DJ.Mol Aspects Med.45:87-96, 2015). 30539453 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. 19903171 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Co-deletion of chromosome 1p/19q and IDH1/2 mutation in glioma subsets of brain tumors in Chinese patients. 22427879 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymatic activity for catalyzing isocitrate to α-ketoglutarate (α-KG) and acquires new activity whereby it converts α-KG to 2-hydroxyglutarate. 24077277 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Exon 4 of IDH1 and IDH2 was analyzed in a series of brain tumors classified according to current WHO criteria. 29535392 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Genetic alterations of IDH1 and Vegf in brain tumors. 28948065 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Here we investigated the ability of magnetic resonance spectroscopy (MRS) to detect 2-HG production in order to non-invasively identify patients with IDH1 mutant brain tumors. 22015945 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Here, we describe the isolation of a glioma brain tumor stem cell line (BT142) with an endogenous R132H mutation in IDH1, aggressive tumor-initiating capacity, and 2-HG production. 22166263 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Heterozygous mutations in the gene encoding isocitrate dehydrogenase-1 (IDH1) occur in certain human brain tumors, but their mechanistic role in tumor development is unknown. 19359588 2009
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE In this study, we address this need by presenting a proton magnetic resonance spectroscopy ((1)H-MRS) acquisition scheme that uses an ultrahigh magnetic field (≥ 7T) capable of noninvasively detecting 2-HG with quantitative measurements sufficient to differentiate mutant cytosolic IDH1 and mitochondrial IDH2 in human brain tumors. 26669865 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Increased overall survival for patients with glioma brain tumours is associated with mutations in the metabolic regulator isocitrate dehydrogenase 1 (IDH1). 27820599 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Isocitrate Dehydrogenase-1 (<i>IDH1)</i> is a driver gene in several cancers including brain tumors such as low-grade and high-grade gliomas. 29971034 2018
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Mean CBF1 expression is significantly increased in isocitrate dehydrogenase 1 (IDH1) R132H mutant glioblastoma and serves as prognostic marker for prolonged overall survival in brain tumours, particularly after therapy with temozolomide. 28571041 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Metrics used for this range from quantification of single oncometabolites (such as 2-hydroxyglutarate in mutant IDH1 glial brain tumours) to selected metabolite ratios (such as total choline to N-acetylaspartate (plain ratio or CNI index)) or the whole <sup>1</sup> H MRSI(I) pattern through pattern recognition analysis. 30633389 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Mutant IDH1 Disrupts the Mouse Subventricular Zone and Alters Brain Tumor Progression. 28148827 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. 21069360 2011
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Mutations in the isocitrate dehydrogenase 1 (IDH1) gene have been identified in a number of cancer types, including brain cancer. 29849122 2018