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
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
Pubmed
15273934
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.276414275077069
Year of publication
2004
Drugs