Annotation Detail
Information
- Associated Genes
- SF3B1
- Associated Variants
-
SF3B1 MUTATION
SF3B1 MUTATION - Associated Disease
- Leukemia, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- A recent report in Nature now demonstrates that a specific mutation in mouse collagen-expressing osteoblastic cells leads to MDS and AML with 100% penetrance and is associated with strikingly similar findings in human patients.
- Pubmed
- 24589711
- Section of the abstract supporting the evidence
- ALL_TEXT
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0404448389399652
Drugs