Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Ocular complications of autoimmune polyendocrinopathy syndrome type 1. 17189144

2006
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. 16965330

2006
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population. 17220063

2006
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 17289071

2007
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. 17118990

2007
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. 17118990

2007
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity. 17675238

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. 18708298

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. 18708298

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 18426830

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. 18728167

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 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
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. 18728167

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 18426830

2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR In conclusion, in this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. 19807739

2009
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 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
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. 19265170

2009
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. 19758376

2009
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. 19758376

2009
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. 20453472

2010
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. 20718774

2010
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR DAXX is a new AIRE-interacting protein. 20185822

2010
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. 20407228

2010
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 21295522

2011
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. 21295522

2011