Annotation Detail
Information
- Associated Genes
- SOAT1
- Associated Variants
-
SOAT1 MUTATION
SOAT1 MUTATION - Associated Disease
- Myeloproliferative disease
- Source Database
- DisGeNET
- Description
- While JAK-STAT pathway activation has been shown to be central to the pathogenesis of the MPN phenotype, the mechanism by which mutant CALR alters cellular function to result in myeloid proliferation remains unclear.
- Pubmed
- 25696868
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
Drugs