Annotation Detail
Information
- Associated Genes
- MVD
- Associated Variants
-
MVD MUTATION
MVD 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
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis).
- Pubmed
- 19605821
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2009
Drugs