Annotation Detail
Information
- Associated Genes
- EPO
- Associated Variants
-
EPO MUTATION
EPO 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
- polycythemia vera
- Source Database
- DisGeNET
- Description
- The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera.
- Pubmed
- 25040297
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.012486326115694
- Year of publication
- 2014
Drugs