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: rs11554137
rs11554137
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.010 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) rs11554137 (IDH1<sup>105GGT</sup>) at codon 105 of IDH1 has been reported in patients with several tumor types, including those with glioma. 29535392 2018
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: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.720 GeneticVariation BEFREE We newly established an anti-IDH1-R132S-specific mAb SMab-1 for use in diagnosis of mutation-bearing gliomas. 21352804 2011
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 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 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 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 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 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 <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 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 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 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
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
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 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 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE • SWI-LIV is significantly increased in high-grade and IDH1-R132H negative gliomas. 27300198 2017
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 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
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0017638
Disease:
Glioma
0.800 GeneticVariation BEFREE MiR-148a increases glioma cell migration and invasion by downregulating GADD45A in human gliomas with IDH1 R132H mutations. 28445981 2017
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