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
- Leukemia, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML.
- Pubmed
- 22818858
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.28478282280643
- Year of publication
- 2012
Drugs