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
These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders.
Pubmed
17178722
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.3516606542292
Year of publication
2007
Drugs