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
Myeloproliferative disease
Source Database
DisGeNET
Description
Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from JAK2(V617F) myeloproliferative neoplasm patients.
Pubmed
23111067
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.3516606542292
Year of publication
2013
Drugs