Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE • SWI-LIV is significantly increased in high-grade and IDH1-R132H negative gliomas. 27300198

2017

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE We report that glioma cells showing the IDH1(R132H) mutation become rapidly and spontaneously senescent in vitro. 24922649

2014

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE We identified a single significant correlation resulting in increased overall survival from temozolomide in lower-grade glioma with IDH1 R132H mutations. 26936071

2016

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE We earlier established a monoclonal antibody (mAb), IMab-1, which is specific for R132H-containing IDH1 (IDH1-R132H), the most frequent IDH1 mutation in gliomas. 21352804

2011

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE We developed and validated a new real-time quantitative polymerase chain reaction (PCR) assay for single-step detection of IDH1 R132H and 11 rare IDH1/2 mutations in formalin-fixed paraffin-embedded (FFPE) glioma samples. 24889502

2014

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Using murine glioma progenitor cells, we demonstrate that IDH1(R132H) exerts a growth-inhibitory effect that is paralleled by deficiency in metabolic flux from glucose and glutamine to lipids. 25225364

2014

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE This study is to understand the effects of IDH1 R132H mutation in gliomagenesis and to develop new strategies to treat glioma with IDH1 R132H mutation. 28052098

2017

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE This study analyses a series of 184 glioma cases in a tissue microarray (TMA)-based approach to assess the frequency of R132H point mutations in formalin-fixed, paraffin-embedded tissue samples. 23361281

2013

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE This novel series of IDH1(R132H) inhibitors have potential to be further developed for the treatment of glioma with IDH1 mutation. 29792149

2018

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE This case suggests that 1p/19q co-deletion may rarely precede IDH1 mutations or that IDH1 mutations may be secondarily lost, as demonstrated by IDH1-R132H positive and negative cells in a glioma with diffuse 1p/19q co-deletion. 25907263

2016

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R132H. 23527265

2013

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE These results support a role for Fn14 in the more aggressive and invasive phenotype associated with IDH1 WT tumors and indicate that the low levels of Fn14 gene expression noted in IDH1 R132H mutant gliomas may be due to epigenetic regulation via changes in DNA methylation. 29453678

2018

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE The isocitrate dehydrogenase 1 (IDH1) R132H mutation is the most common mutation in World Health Organization (WHO) grade II gliomas, reported to be expressed in 70-80%, but only 5-10% of high grade gliomas. 24903073

2014

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 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

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE The R132H mutation in isocitrate dehydrogenase 1 (IDH1-R132H) is associated with better prognosis in glioma patients. 29115585

2018

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Small-size DNA (150-250 base pairs) was extracted from the plasma of 31 controls and 80 patients with glioma with known IDH1(R132H) status and correlated with MRI data. 23035067

2012

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Sequencing for rare IDH mutations is advised for A,NOS and OA,NOS groups, but not for the IDH1(R132H)-non-mutant diffuse gliomas with 1p/19q co-deletion. 28801347

2018

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Recurrent heterozygous mutation of isocitrate dehydrogenase 1 gene (<i>IDH1</i>), predominantly resulting in histidine substitution at arginine 132, was first identified in glioma. 30416682

2018

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 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

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Overall, our results provide evidence that the IDH1-R132H mutation alters phospholipid metabolism in gliomas involving phosphoethanolamine and glycerophosphocholine. 25005896

2014

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Our results suggest that the pathogenesis of multicentric gliomas is different from the mutant IDH1-R132H pathogenesis of lower-grade glioma and secondary glioblastomas. 27553586

2017

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Our results indicate the usefulness of assessing the R132H IDH1 mutation in glioma patients: the presence or absence of the R132H mutation can help pathologists to distinguish pilocytic astrocytomas (IDH1 WT) from diffuse ones (R132H IDH1/WT). 23934769

2014

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Oncogenic MicroRNA-20a is downregulated by the HIF-1α/c-MYC pathway in IDH1 R132H-mutant glioma. 29625108

2018

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Of 158 tumors with sufficient tissue, 110 (70 %) showed nuclear cMYC immunopositivity--most frequent (95 %, χ(2) p = 0.0248) and intense (mean 1.33, ANOVA p = 0.0179) in anaplastic astrocytomas versus glioblastomas (63 %) or low grade gliomas (74 %). cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) and mutant IDH1 (R132H) (OR = 7.4, p = 0.06) among malignant gliomas in our cohort. 23934175

2013

dbSNP: rs121913500
rs121913500
CUI: C0017638
Disease: Glioma
Glioma
0.800 GeneticVariation BEFREE Mutations of isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (R132H), have been described in World Health Organization grade II and III diffuse gliomas and secondary glioblastoma. 22445362

2012