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
- The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophilic syndrome (HES) and T315I Bcr-Abl in chronic myeloid leukemia (CML) are resistant to imatinib and the second-generation small-molecule tyrosine kinase inhibitors (TKI).
- Pubmed
- 22447844
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0078718142903288
- Year of publication
- 2012
Drugs