Annotation Detail

Information
Associated Genes
SF3B2
Associated Variants
SF3B2 MUTATION
SF3B2 MUTATION
Associated Disease
Leukemia, Myelocytic, Acute
Source Database
DisGeNET
Description
Results confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and identify new recurrent mutations in splicing factors (5/12 AMLs in SF3B1 and 2/12 AMLs in U2AF1), IKZF1 (3/12 AMLs), and TP53 (3/12 AMLs).
Pubmed
25331116
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Drugs