Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51)
(
ENST00000291582.6 )
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51) ( ENST00000291582.6 )
AIRE p.Ala21Val (p.A21V) ( ENST00000291582.6 )
AIRE p.Trp78Arg (p.W78R) ( ENST00000291582.6 )
AIRE p.Trp78Arg (p.W78R) ( ENST00000291582.6 )
AIRE p.Tyr85Cys (p.Y85C) ( ENST00000291582.6 )
AIRE p.Lys114Asn (p.K114N) ( ENST00000291582.6 )
AIRE p.Pro124Leu (p.P124L) ( ENST00000291582.6 )
AIRE p.Arg139Gly (p.R139G) ( ENST00000291582.6 )
AIRE p.Arg139Ter (p.R139*) ( ENST00000291582.6 )
AIRE p.Gly155Ser (p.G155S) ( ENST00000291582.6 )
AIRE c.463+2T>C ( ENST00000291582.6 )
AIRE p.Arg257= (p.R257=) ( ENST00000291582.6 )
AIRE p.Arg257Ter (p.R257*) ( ENST00000291582.6 )
AIRE p.Cys311Tyr (p.C311Y) ( ENST00000291582.6 )
AIRE p.Thr441Met (p.T441M) ( ENST00000291582.6 )
AIRE p.Ter546Cysext*? (p.*546Cext*?) ( ENST00000291582.6 )
AIRE p.Ala21Val (p.A21V) ( ENST00000291582.6 )
AIRE p.Trp78Arg (p.W78R) ( ENST00000291582.6 )
AIRE p.Trp78Arg (p.W78R) ( ENST00000291582.6 )
AIRE p.Tyr85Cys (p.Y85C) ( ENST00000291582.6 )
AIRE p.Lys114Asn (p.K114N) ( ENST00000291582.6 )
AIRE p.Pro124Leu (p.P124L) ( ENST00000291582.6 )
AIRE p.Arg139Gly (p.R139G) ( ENST00000291582.6 )
AIRE p.Arg139Ter (p.R139*) ( ENST00000291582.6 )
AIRE p.Gly155Ser (p.G155S) ( ENST00000291582.6 )
AIRE c.463+2T>C ( ENST00000291582.6 )
AIRE p.Arg257= (p.R257=) ( ENST00000291582.6 )
AIRE p.Arg257Ter (p.R257*) ( ENST00000291582.6 )
AIRE p.Cys311Tyr (p.C311Y) ( ENST00000291582.6 )
AIRE p.Thr441Met (p.T441M) ( ENST00000291582.6 )
AIRE p.Ter546Cysext*? (p.*546Cext*?) ( ENST00000291582.6 )
AIRE p.Met388AsnfsTer36 (p.M388Nfs*36)
AIRE p.Leu417ProfsTer7 (p.L417Pfs*7)
AIRE p.Met388AsnfsTer36 (p.M388Nfs*36)
AIRE p.Leu417ProfsTer7 (p.L417Pfs*7) - Associated Disease
- Polyglandular Type I Autoimmune Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.335472186708577
- Year of publication
- NA
Drugs