Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Ala21Val (p.A21V)
(
ENST00000291582.6 )
AIRE p.Tyr85Cys (p.Y85C) ( ENST00000291582.6 )
AIRE p.Ala21Val (p.A21V) ( ENST00000291582.6 )
AIRE p.Tyr85Cys (p.Y85C) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular Type I Autoimmune Syndrome
- Source Database
- DisGeNET
- Description
- AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
- Pubmed
- 12050215
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.335472186708577
- Year of publication
- 2002
Drugs