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
R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with systemic lupus erythematosus: relation to thyroid autoimmunity.
Pubmed
23314521
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.276414275077069
Year of publication
2013
Drugs