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
The shorter interval of progression and negative IDH1-R132H mutation status suggest a similar molecular pathway as seen in primary GBM.
Pubmed
22197544
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0528427456204642
Year of publication
2012
Drugs