Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE To confirm this mutation's role in GSCs, the IDH1-R132H in GSCs isolated from glioblastoma patients with IDH1 mutations was overexpressed by using lentiviral constructs in vitro, and then the proliferation, differentiation, apoptosis, migration and invasion of the transfected GSCs were explored. 29115585 2018
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Using antibody against p53 and IDH1 R132H, the authors immunohistochemically analyzed GBM tissue from patients who had undergone surgery at the University of Miyazaki Hospital during August 2005-December 2011. 25415071 2015
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE In this study, we investigated which genes are differentially regulated in IDH1 wild type (IDH1WT) or IDH1 R132H mutation (IDH1R132H) glioblastoma cells. 28445981 2017
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE We identified a small cohort of WHO grade II-III astrocytomas that harbored the IDH1 R132H mutation, as confirmed by both immunohistochemistry and molecular sequence analysis, which nonetheless had unexpectedly rapid recurrence and subsequent progression to glioblastoma. 28421459 2017
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE The prognostic value of IDH1 R132H mutation in GBM patients was verified. 24511544 2014
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation. 24473683 2014
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.100 GeneticVariation BEFREE Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. 23011765 2013