Annotation Detail

Information
Associated Genes
BCR
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
Source Database
DisGeNET
Description
Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL1 single mutants in Philadelphia chromosome-positive (Ph(+)) leukemia, including the recalcitrant BCR-ABL1(T315I) mutant.
Pubmed
25132497
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00705748867408789
Year of publication
2014
Drugs