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
- Hepatic Vein Thrombosis
- Source Database
- DisGeNET
- Description
- Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
- Pubmed
- 16762626
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2006
Drugs