Gene: AIRE ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs179363882
rs179363882
AIRE
0.810 GeneticVariation BEFREE The APECED-related AIRE gene mutations, which is R257X (Finn-major) in exon 6, 4-bp insertion and 13-bp deletion in exon 8, and Iranian Jews population 'Y85C' mutation in exon 2, were studied by PCR-RFLP (Taq-I), PCR and nucleotide sequencing, respectively.CaSRAb were studied by immunoblotting. 16313305

2005
dbSNP: rs179363882
rs179363882
AIRE
G 0.810 CausalMutation CLINVAR

dbSNP: rs179363882
rs179363882
AIRE
0.810 GeneticVariation UNIPROT

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

2017
dbSNP: rs121434255
rs121434255
AIRE
0.800 GeneticVariation UNIPROT AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies. 27426947

2016
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: rs179363889
rs179363889
AIRE
0.800 GeneticVariation UNIPROT AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies. 27426947

2016
dbSNP: rs386833674
rs386833674
AIRE
0.800 GeneticVariation UNIPROT AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies. 27426947

2016
dbSNP: rs121434255
rs121434255
AIRE
0.800 GeneticVariation UNIPROT Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. 26084028

2015
dbSNP: rs179363889
rs179363889
AIRE
0.800 GeneticVariation UNIPROT Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. 26084028

2015
dbSNP: rs386833674
rs386833674
AIRE
0.800 GeneticVariation UNIPROT Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. 26084028

2015
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: rs121434255
rs121434255
AIRE
0.800 GeneticVariation UNIPROT Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator. 19446523

2009
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: rs179363889
rs179363889
AIRE
0.800 GeneticVariation UNIPROT Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator. 19446523

2009
dbSNP: rs386833674
rs386833674
AIRE
0.800 GeneticVariation UNIPROT Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator. 19446523

2009
dbSNP: rs121434255
rs121434255
AIRE
0.800 GeneticVariation UNIPROT The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. 18292755

2008
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