Annotation Detail
Information
- Associated Genes
- SF3B2
- Associated Variants
-
SF3B2 MUTATION
SF3B2 MUTATION - Associated Disease
- Refractory anemia, without ringed sideroblasts, without excess blasts
- Source Database
- DisGeNET
- Description
- The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), particularly in patients with refractory anemia with ring sideroblasts (RARS).
- Pubmed
- 25428262
- 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
- DisGENET score for the Gene Disease association
- 0.00217153497664243
Drugs