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
- A variant (R620W) of PTPN22 was consistently associated with type 1 diabetes in Caucasian populations, but the variant was absent in Asian populations including Japanese.
- Pubmed
- 17130532
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.474764422669607
- Year of publication
- 2006
Drugs