Annotation Detail

Information
Associated Genes
PTPN22
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
Autoimmune Diseases
Source Database
DisGeNET
Description
Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue.
Pubmed
23076337
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.225732605805839
Year of publication
2012
Drugs