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
- Chronic myeloproliferative disorder
- Source Database
- DisGeNET
- Description
- The identification of Jak2(V617F) mutations in more than 90% of patients with polycythemia vera (PV) has greatly improved the diagnostic accuracy for this uncommon myeloproliferative disorder.
- Pubmed
- 23588264
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0461451182536516
- Year of publication
- 2013
Drugs