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
systemic scleroderma
Source Database
DisGeNET
Description
The association between the PTPN22 C1858T polymorphism and systemic sclerosis: a meta-analysis.
Pubmed
21688149
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00990139104839396
Year of publication
2012
Drugs