Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118101777
rs118101777
IDH2
CUI: C0017638
Disease: Glioma
Glioma 		0.050 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: rs118101777
rs118101777
IDH2
CUI: C0017638
Disease: Glioma
Glioma 		0.050 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: rs118101777
rs118101777
IDH2
CUI: C0017638
Disease: Glioma
Glioma 		0.050 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: rs118101777
rs118101777
IDH2
CUI: C0017638
Disease: Glioma
Glioma 		0.050 GeneticVariation BEFREE In this study, we generated clonal U87 and U251 glioma cell lines overexpressing the R132H mutant protein (IDH1-R132H). 25283382

2015
dbSNP: rs118101777
rs118101777
IDH2
CUI: C0017638
Disease: Glioma
Glioma 		0.050 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