Gene: AIRE ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs179363882
rs179363882
AIRE
G 0.810 CausalMutation CLINVAR

dbSNP: rs179363889
rs179363889
AIRE
T 0.800 GeneticVariation CLINVAR Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. 28446514

2017
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells. 27048654

2016
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives. 21508664

2012
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR Three patients carried a homozygous W78R mutation on exon 2, typical of patients with APECED from Apulia; the fourth patient had a homozygous R203X mutation on exon 5, typical of APECED patients from Sicily. 22104652

2012
dbSNP: rs179363886
rs179363886
AIRE
T 0.800 GeneticVariation CLINVAR Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives. 21508664

2012
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 21295522

2011
dbSNP: rs179363886
rs179363886
AIRE
T 0.800 GeneticVariation CLINVAR Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 21295522

2011
dbSNP: rs179363889
rs179363889
AIRE
T 0.800 GeneticVariation CLINVAR Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 21295522

2011
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR DAXX is a new AIRE-interacting protein. 20185822

2010
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. 18616706

2009
dbSNP: rs179363886
rs179363886
AIRE
T 0.800 GeneticVariation CLINVAR Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. 18708298

2008
dbSNP: rs179363886
rs179363886
AIRE
T 0.800 GeneticVariation CLINVAR Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. 18682433

2008
dbSNP: rs179363889
rs179363889
AIRE
T 0.800 GeneticVariation CLINVAR Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity. 17675238

2008
dbSNP: rs179363889
rs179363889
AIRE
T 0.800 GeneticVariation CLINVAR Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 17289071

2007
dbSNP: rs179363889
rs179363889
AIRE
T 0.800 GeneticVariation CLINVAR Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. 15811934

2005
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR APECED-causing mutations in AIRE reveal the functional domains of the protein. 14974083

2004
dbSNP: rs179363886
rs179363886
AIRE
T 0.800 GeneticVariation CLINVAR APECED-causing mutations in AIRE reveal the functional domains of the protein. 14974083

2004
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. 11836330

2002
dbSNP: rs179363886
rs179363886
AIRE
T 0.800 GeneticVariation CLINVAR AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. 12050215

2002
dbSNP: rs179363889
rs179363889
AIRE
T 0.800 GeneticVariation CLINVAR Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. 11836330

2002
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR From 54 analyzed APECED chromosomes, eight mutations were detected, four of which (T16M, W78R, IVS1_IVS4, 30-53dup23bp) are novel. 11524733

2001
dbSNP: rs179363880
rs179363880
AIRE
C 0.800 CausalMutation CLINVAR [Laparoscopic cholecystectomy--a patient-friendly operation]. 1836330

1991
dbSNP: rs121434255
rs121434255
AIRE
G 0.800 CausalMutation CLINVAR

dbSNP: rs386833674
rs386833674
AIRE
A 0.800 GeneticVariation CLINVAR