rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation BEFREE Patients/Methods In a prospective cohort study, intratumoral IDH1 R132H mutation and podoplanin were determined in brain tumor specimens (mainly glioma) by immunohistochemistry. 29676036 2018
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation 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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation BEFREE This study evaluates the presence of R132H mutation in isocitrate dehydrogenase (<i>IDH1</i>) gene and the vascular endothelial growth factor (<i>VEGF</i>) +936 C/T polymorphism in brain tumors. 28948065 2017
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation 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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation 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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation CLINVAR An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. 23558169 2013
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation 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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation 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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation BEFREE A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody. 21643842 2011
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.790 GeneticVariation BEFREE Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. 19903171 2010