Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Arg139Gly (p.R139G)
(
ENST00000291582.6 )
AIRE p.Arg139Ter (p.R139*) ( ENST00000291582.6 )
AIRE p.Arg139Gly (p.R139G) ( ENST00000291582.6 )
AIRE p.Arg139Ter (p.R139*) ( ENST00000291582.6 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- Given the carrier frequency of R139X in the Sardinian population, AIRE may be implicated in the pathogenesis of other autoimmune diseases in the Sardinian population, particularly those affecting the endocrine system.
- Pubmed
- 9856486
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0226690905578324
- Year of publication
- 1998
Drugs