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
- portal vein thrombosis
- Source Database
- DisGeNET
- Description
- In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without overt MPD.
- Pubmed
- 21893442
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2011
Drugs