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 GeneticVariation group BEFREE We show that compound 5 exhibits good brain exposure and potent 2-HG inhibition in a HT1080-derived mouse xenograft model, which makes it a potential preclinical candidate to treat IDH1-mutant brain tumors. 31561044 2019
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 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 We first demonstrated identical IDH mutations in the brain tumor samples from various locations in this patient, but different 1p,19q results by fluorescent in-situ hybridization, different whole genome copy number profiles by OncoScan analysis, and a discrepant IDH2M131I mutation unique to one tumor, supporting a multifocal disease process in the setting of somatic IDH mosaicism. 30159860 2018
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
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 AlteredExpression group BEFREE Patients with wild-type IDH1 brain tumors and high podoplanin expression had a significantly increased VTE risk compared with those with mutant IDH1 tumors and no podoplanin expression (6-month risk 18.2% vs. 0%). 29676036 2018
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 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 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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells. 28748342 2017
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 Mutant IDH1 Disrupts the Mouse Subventricular Zone and Alters Brain Tumor Progression. 28148827 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE We show that a conformation-specific Fab can reactivate an IDH1 mutant associated with brain tumors. 28373671 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE The new 2016 WHO brain tumor classification defines different diffuse gliomas primarily according to the presence or absence of IDH mutations ( IDH-mt) and combined 1p/19q loss. 28640702 2017
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 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 The IDH1-R132H mutation predicts a better clinical outcome for glioma patients, and the expression of IDH1-R132H correlates with a favorable outcome in patients with brain tumors. 27655638 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE The intraoperative assessment of IDH1 mutation is useful in brain tumor surgeries. 26695622 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 GeneticVariation group BEFREE Our findings indicate that CDKN2A/B risk genotypes are associated with primary glioblastoma without IDH mutation, and that there is an inverse association between RTEL1 risk genotypes and 1p/19q codeletion, suggesting that these genetic variants have a molecular impact on the genesis of high graded brain tumors. 26839018 2016
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 GeneticVariation group BEFREE Together, these findings (1) show that IDH mutation status is associated with a distinct angiogenesis transcriptome signature which is non-invasively predictable with rCBV imaging and (2) highlight the potential future of radiogenomics (i.e. the correlation between cancer imaging and genomic features) towards a more accurate diagnostic workup of brain tumors. 26538165 2015
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 AlteredExpression group BEFREE We used human glioma tissues and derived brain tumor stem cells (BTSCs) to study the expression of HIF1α target genes in IDH mutant ((mt)) and IDH wild-type ((wt)) tumors. 24366912 2014
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.500 Biomarker group BEFREE Somatic mutation of isocitrate dehydrogenase 1 (IDH1) is now recognized as the most common initiating event for secondary glioblastoma, a brain tumor type arising with high frequency in the frontal lobe. 25225364 2014
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