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
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population.
Pubmed
17697317
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.474764422669607
Year of publication
2007
Drugs