Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 GeneticVariation disease BEFREE <b>Abbreviations:</b> AA: Alopecia areata; AIRE: Autoimmune Regulator; APECED: Autoimmune, Polyendocrinopathy Candidiasis Ectodermal Dystrophy; DLQI: Dermatology life quality index questionnaire; MIQE: Minimum information for publication of quantitative real-time PCR experiments; mTEC: Medullary thymic epithelial cells; PHD: Plant homeodomain; qRT-PCR: Quantitative reversetranscription-polymerase chain reaction; RA: Rheumatoid arthritis. 31601134 2020
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 Biomarker disease BEFREE To our knowledge, we generated the first AIRE-deficient rat model using zinc-finger nucleases and demonstrated that they display several of the key symptoms of APECED disease, including alopecia, skin depigmentation, and nail dystrophy, independently of the genetic background. 29959280 2018
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 GeneticVariation disease BEFREE DNA screening for autoimmune regulator (AIRE) gene mutations was performed in established APS-1 patients and in patients with the single components of chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, or alopecia. 20407228 2010
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 GeneticVariation disease BEFREE We have previously detected an association between alopecia areata and single nucleotide polymorphisms (SNPs) in the AIRE gene. 18616774 2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 GeneticVariation disease BEFREE The AIRE risk haplotypes identified in this study potentially account for a major component of the genetic risk of developing alopecia areata. 18194361 2008
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 GeneticVariation disease BEFREE Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata. 16774540 2006
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 GeneticVariation disease BEFREE Finally, the association of alopecia areata with Down's syndrome, the high frequency of alopecia areata in autoimmune polyglandular syndrome type I due to mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3 and the finding of association with MX1, another gene in the Down's syndrome region of chromosome 21 indicate this area of the genome as a promising target for future-family based investigations. 12190641 2002
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 Biomarker disease BEFREE In this study, we have examined the possible involvement of AIRE in the pathogenesis of alopecia areata. 12542742 2002
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.180 Biomarker disease HPO