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
- Acute Erythroblastic Leukemia
- Source Database
- DisGeNET
- Description
- Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell line.
- Pubmed
- 17178722
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00381011773078838
- Year of publication
- 2007
Drugs