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
thrombocytosis
Source Database
DisGeNET
Description
Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis.
Pubmed
18160670
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.164325815454054
Year of publication
2008
Drugs