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
Glioma
Source Database
DisGeNET
Description
Also, we have shown that the expression of IDH1 R132H in GTNI is largely concordant with that in diffuse gliomas, and that it can be dependent on each histologic component although the mutant IDH1 gene is ubiquitously present within the tumor.
Pubmed
22385787
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.221550392854677
Year of publication
2012
Drugs