Annotation Detail

Information
Associated Genes
STAT5A
Associated Variants
STAT5A MUTATION
STAT5A 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
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV.
Pubmed
22234689
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00217153497664243
Year of publication
2012
Drugs