Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity.
Pubmed
17510392
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.16
Year of publication
2007
Drugs