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
Brain Neoplasms
Source Database
DisGeNET
Description
Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors.
Pubmed
19903171
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.039924494502436
Year of publication
2010
Drugs