Annotation Detail
Information
- Associated Genes
- ACP1
- 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
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- Considerable amount of evidences in the Caucasians have suggested the association of a missense single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene (rs2476601) with several autoimmune diseases including autoimmune thyroid diseases (AITD) and type 1 diabetes (T1D).
- Pubmed
- 22069277
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0135720936040152
- Year of publication
- 2011
Drugs