Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Ala264LeufsTer114 (p.A264Lfs*114)
(
ENST00000291582.6 )
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51) ( ENST00000291582.6 )
AIRE p.Ala264LeufsTer114 (p.A264Lfs*114) ( ENST00000291582.6 )
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51) ( ENST00000291582.6 ) - Associated Disease
- AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs