Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Arg257= (p.R257=)
(
ENST00000291582.6 )
AIRE p.Arg257Ter (p.R257*) ( ENST00000291582.6 )
AIRE p.Arg257= (p.R257=) ( ENST00000291582.6 )
AIRE p.Arg257Ter (p.R257*) ( ENST00000291582.6 ) - Associated Disease
- candidiasis
- Source Database
- DisGeNET
- Description
- The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations.
- Pubmed
- 12050215
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.128348684686033
- Year of publication
- 2002
Drugs