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 CausalMutation CLINVAR Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. 28919897

2017
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 an Indian cohort: a longitudinal study. 28446514

2017
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR GAD antibody-associated limbic encephalitis in a young woman with APECED. 28567288

2017
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 an Indian cohort: a longitudinal study. 28446514

2017
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. 26915675

2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR AIRE-mutations and autoimmune disease. 27504588

2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 27588307

2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Functional Domains of Autoimmune Regulator (AIRE) Modulate INS-VNTR Transcription in Human Thymic Epithelial Cells. 27048654

2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 27588307

2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. 26915675

2016
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. 26141571

2015
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1. 26114819

2015
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 polyendocrinopathy candidiasis ectodermal dystrophy. 26141571

2015
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR We have identified multiple cases and families with mono-allelic mutations in the first plant homeodomain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later onset, milder phenotypes, and reduced penetrance compared to classical APS-1. 26084028

2015
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. 24158785

2013
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 and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives. 21508664

2012
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation CLINVAR Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. 22162465

2012
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives. 21508664

2012
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-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns. 22104652

2012
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 polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation. 22024611

2012
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes. 22450362

2012
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 polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation. 23133448

2012
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
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation CLINVAR Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription. 21724609

2011