Annotation Detail

Information
Associated Genes
SF3B1
Associated Variants
SF3B1 MUTATION
SF3B1 MUTATION
Associated Disease
chronic lymphocytic leukemia
Source Database
DisGeNET
Description
Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and before treatment (>90%).
Pubmed
24943832
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree,CTD_human
DisGENET score for the Gene Disease association
0.127057488674088
Drugs