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
- Budd-Chiari syndrome
- Source Database
- DisGeNET
- Description
- Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome.
- Pubmed
- 19308656
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.255721222493919
- Year of publication
- 2009
Drugs