Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
JAK2 MUTATION
JAK2 MUTATION
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- Leukemia, Myelomonocytic, Chronic
- Source Database
- DisGeNET
- Description
- The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML.
- Pubmed
- 19734476
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0128113067711566
- Year of publication
- 2009
Drugs