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 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 In this study, we generated clonal U87 and U251 glioma cell lines overexpressing the R132H mutant protein (IDH1-R132H). 25283382 2015
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 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 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 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 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 We report that glioma cells showing the IDH1(R132H) mutation become rapidly and spontaneously senescent in vitro. 24922649 2014
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE In conclusion, the association of a C-terminally truncated form of αB-crystallin protein with the IDH1(R132H) mutation is a novel finding that could impact apoptosis and stress response in IDH1 mutant glioma. 24473683 2014
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Double staining for IDH1-R132H and Ki-67 demonstrated that most invading cells that expressed IDH1-R132H were not stained by the Ki-67 antibody, and the ratio of Ki-67-positive cells among IDH1-R132H-positive cells was significantly lower in the invasion area than in the tumor core in all grades of glioma. 24384677 2014
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
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 This glioma xenograft is the first to display a pure oligodendroglioma histology and expression of R132H. 23527265 2013
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
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 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 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
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 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
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
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 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 UNIPROT