Annotation Detail

Information
Associated Genes
TET2
Associated Variants
TET2 MUTATION
TET2 MUTATION
Associated Disease
myelodysplastic syndrome
Source Database
DisGeNET
Description
The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysplastic syndromes with ring sideroblasts (MDS-RS) highlights the importance of the RNA-splicing machinery in MDS.
Pubmed
25481243
Section of the abstract supporting the evidence
BACKGROUND
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,GAD
DisGENET score for the Gene Disease association
0.143778602264544
Drugs