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
- chronic eosinophilic leukemia
- Source Database
- DisGeNET
- Description
- FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, but resistance due to acquired T674I mutation has been observed.
- Pubmed
- 16645167
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.134657861092336
- Year of publication
- 2006
Drugs