Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu255Lys (p.E255K)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu274Lys (p.E274K) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Glu255Lys (p.E255K) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Glu274Lys (p.E274K) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- Philadelphia chromosome-positive acute lymphoblastic leukemia
- Source Database
- DisGeNET
- Description
- Presence of the BCR-ABL mutation Glu255Lys prior to STI571 (imatinib) treatment in patients with Ph+ acute lymphoblastic leukemia.
- Pubmed
- 12663457
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0195438147897818
- Year of publication
- 2003
Drugs