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
- polycythemia vera
- Source Database
- DisGeNET
- Description
- This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a forme fruste of PV consistent with early PV mimicking ET (JAK2 V617F trilinear MPD).
- Pubmed
- 16810609
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2006
Drugs