Annotation Detail
Information
- Associated Genes
- ASXL1
- Associated Variants
-
ASXL1 MUTATION
ASXL1 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,GAD,MGD
- DisGENET score for the Gene Disease association
- 0.0971444452027773
Drugs