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

N. diseases: 399; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Interestingly, non-p.R132H mutations segregate in distinct histological and molecular subtypes of glioma. 20077503 2010
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response. 30760578 2019
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE <i>IDH1</i> mutations only affected brainstem gliomas (6/24 vs 0/78; <i>p</i> = 7.5 × 10<sup>-5</sup>), were mostly non-R132H (contrasting with hemispheric gliomas, <i>p</i> = 0.0001), and were associated with longer survival (54 vs 12 months). 29728520 2018
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE IDH1(R132H) mutation increases U87 glioma cell sensitivity to radiation therapy in hypoxia. 24895549 2014
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Gliomas were analyzed for MGMT methylation, glioma CpG island methylator phenotype and IDH1 R132H. 27337298 2016
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE IDH1 R132H mutation regulates glioma chemosensitivity through Nrf2 pathway. 28427200 2017
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Mutations in the isocitrate dehydrogenase (IDH) 1 gene are commonly found in human glioma, with the majority of low-grade gliomas harboring a recurrent point mutation (IDH1 R132H). 31768950 2019
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Further, overexpression of β-catenin in IDH1-R132H glio</span>ma cells restored the cellular phenotype induced by this mutation. 26860959 2016
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE In conclusion, we established an anti-IDH1(R132H)-specific monoclonal antibody IMab-1, which should be significantly useful for diagnosis and biological evaluation of mutation-bearing gliomas. 19818334 2009
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE As IDH1(R132H) is present in all tumour cells of these slow-growing gliomas, a mutation-specific anti-IDH1(R132H) vaccine may represent a viable novel therapeutic strategy for IDH1(R132H)-mutated tumours. 25043048 2014
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE If a glioma is weakly positive for mIDH1(R132H), immunohistochemistry for RcMab-1 should be performed. 26006098 2015
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Activated leukocyte adhesion molecule expression in gliomas was independent of proliferative activity, MGMT status, patient survival, and age, whereas gliomas with IDH1 (R132H) mutation had significantly higher activated leukocyte adhesion molecule levels than their wild-type counterparts. 22304788 2012
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Isocitrate dehydrogenase (IDH) mutations, particularly IDH1 R132H (G395A), are found in WHO Grade II and III diffuse gliomas as well as secondary, but not primary, glioblastomas. 22385787 2012
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE For this study, 164 cases of glioma were evaluated immunohistochemically for IDH1 mutations (R132H and R132S) using anti-IDH1 mAbs (HMab-1 and SMab-1). 22396072 2012