Annotation Detail
Information
- Associated Genes
- TYK2
- Associated Variants
-
TYK2 MUTATION
TYK2 MUTATION
TYK2 p.Pro1104Ala (p.P1104A) ( ENST00000524462.5, ENST00000525621.6, ENST00000525976.6, ENST00000531836.6, ENST00000699360.1, ENST00000699365.1 )
TYK2 p.Pro1104Ala (p.P1104A) ( ENST00000524462.5, ENST00000525621.6, ENST00000525976.6, ENST00000531836.6, ENST00000699360.1, ENST00000699365.1 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated with susceptibility to autoimmune disease.
- Pubmed
- 23359498
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00408155960286869
- Year of publication
- 2013
Drugs