Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Tyr272Phe (p.Y272F)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Tyr272Phe (p.Y272F) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- Philadelphia chromosome positive chronic myelogenous leukemia
- Source Database
- DisGeNET
- Description
- Here we show that in vivo application of targeted nonvirally delivered synthetic bcr-abl siRNA in a female patient with recurrent Philadelphia chromosome positive chronic myeloid leukemia (CML) resistant to imatinib (Y253F mutation) and chemotherapy after allogeneic hematopoietic stem cell transplantation can silence the expression of bcr-abl gene.
- Pubmed
- 19301661
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00705748867408789
- Year of publication
- 2009
Drugs