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 UNIPROT
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.720 GeneticVariation UNIPROT
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 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 Additionally, 5-aza enhances the therapeutic effect of the DNA damaging agent TMZ in both subcutaneous and orthotopic PDX models of IDH1 R132H mutant glioma. 30184215 2019
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE Although there are many changes of genes in tumour malignant progression, IDH1 R132H mutation status in glioma progression remained unclear. 28928859 2017
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 CRISPR Editing of Mutant IDH1 R132H Induces a CpG Methylation-Low State in Patient-Derived Glioma Models of G-CIMP. 31292202 2019
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 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: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.720 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 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 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 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 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 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 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 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 1 case, an IDH1 R132H-mutant glioma was misdiagnosed as a demyelinating condition by frozen section histology during the intraoperative consultation, and no resection was performed pending the final pathology report. 30611146 2019
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE In cases tested by DNA sequencing, the fraction of non-R132H mutations was 5.4%, which included only 2 high-grade gliomas in patients ≥55 years (0.9%). 29016871 2017
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 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 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 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 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