Annotation Detail

Information
Associated Genes
INS
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
The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes.
Pubmed
21429197
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.370897400969869
Year of publication
2011
Drugs