Annotation Detail

Information
Associated Genes
ACP1
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 Erythematosus, Systemic
Source Database
DisGeNET
Description
The aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to systemic lupus erythematosus (SLE) in ethnically different populations.
Pubmed
21078766
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00671010193188688
Year of publication
2011
Drugs