Annotation Detail

Information
Associated Genes
TNF
Associated Variants
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
Associated Disease
Lupus Vulgaris
Source Database
DisGeNET
Description
The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.
Pubmed
18759295
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00826280829424801
Year of publication
2008
Drugs