Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Thr334Ile (p.T334I)
(
ENST00000372348.9,
ENST00000318560.6 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 ) - Associated Disease
- Philadelphia chromosome-positive acute lymphoblastic leukemia
- Source Database
- DisGeNET
- Description
- T315I mutation in BCR-ABL causes resistance to therapy with tyrosine kinase inhibitors (TKIs) in Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph(+) ALL) cases.
- Pubmed
- 22593461
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0195438147897818
- Year of publication
- 2012
Drugs