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
Myeloid Leukemia, Chronic
Source Database
DisGeNET
Description
Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44%) had hematologic responses and one of three patients (33%) with Philadelphia chromosome-positive acute lymphoblastic leukemia obtained complete remission.
Pubmed
22772060
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.371405336343011
Year of publication
2013
Drugs