Annotation Detail

Information
Associated Genes
APOA1
Associated Variants
APOA1 MUTATION
APOA1 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
Thrombocythemia, Essential
Source Database
DisGeNET
Description
Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously validated marker of JAK2-V617F allele burden in PV.
Pubmed
18838204
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs