Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA p.Thr674Ile (p.T674I), ENSG00000282278 p.Thr434Ile (p.T434I) ( ENST00000257290.10 )
PDGFRA p.Thr674Ile (p.T674I), ENSG00000282278 p.Thr434Ile (p.T434I) ( ENST00000257290.10 )
Associated Disease
disseminated eosinophilic collagen disease
Source Database
DisGeNET
Description
In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a prospective agent for the treatment of HES/CEL.
Pubmed
25431951
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0078718142903288
Year of publication
2014
Drugs