Annotation Detail

Information
Associated Genes
STAT5B
Associated Variants
STAT5B MUTATION
STAT5B 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
Primary myelofibrosis
Source Database
DisGeNET
Description
Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis commonly express mutant JAK2-V617F or other mutations that are associated with increased activities of JAK-STAT5/3, RAS/RAF/MAPK, and PI3K/AKT/mTOR pathways.
Pubmed
23445613
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00217153497664243
Year of publication
2013
Drugs