Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 MUTATION
ABL1 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
- Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera.
- Pubmed
- 20499211
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00869607142823385
- Year of publication
- 2011
Drugs