Annotation Detail
Information
- Associated Genes
- SF3B1
- Associated Variants
-
SF3B1 MUTATION
SF3B1 MUTATION - Associated Disease
- Iron Overload
- Source Database
- DisGeNET
- Description
- Our studies suggest that SF3B1 mutations contribute to cellular iron overload in RARS/-T by deregulating SLC25A37.
- Pubmed
- 24854990
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs