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
refractory CML
Source Database
DisGeNET
Description
The leading third-generation clinical candidate for treatment-refractory CML, including patients with the T315I mutation, is ponatinib (AP24534), a pan-BCR-ABL inhibitor that has entered pivotal phase 2 testing.
Pubmed
21098337
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2011
Drugs