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
Malignant glioma
Source Database
DisGeNET
Description
c-Met/nestin/IDH1-R132H expression phenotypes recapitulate the molecular subgroups of malignant glioma.
Pubmed
23619925
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00461451182536516
Year of publication
2013
Drugs