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
- Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality, as well as the presence of homozygous wild-type JAK2 erythropoietin-independent erythroid colonies, provide compelling evidence that the JAK2(V617F) is not the PV-initiating mutation.
- Pubmed
- 17198871
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.012486326115694
- Year of publication
- 2007
Drugs