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
- Primary biliary cirrhosis
- Source Database
- DisGeNET
- Description
- Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein.
- Pubmed
- 11343230
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2001
Drugs