Annotation Detail

Information
Associated Genes
PRSS27
Associated Variants
JAK2 c.1641+779C>G ( ENST00000381652.4 )
JAK2 c.1641+779C>G ( ENST00000381652.4 )
Associated Disease
polycythemia vera
Source Database
DisGeNET
Description
Therefore, we examined 108 Japanese patients with MPN, including 19 with PV, 61 with ET, 10 with PMF, and 17 with unclassifiable MPN, as well as 104 control individuals for the JAK2 rs10974944(C/G) single nucleotide polymorphism, in which the G allele indicates the 46/1 haplotype.
Pubmed
23430670
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00380018620912425
Year of publication
2013
Drugs