Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
glioblastoma
Source Database
DisGeNET
Description
We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation.
Pubmed
24473683
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0528427456204642
Year of publication
2014
Drugs