AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Polyglandular Type I Autoimmune Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR [Laparoscopic cholecystectomy--a patient-friendly operation]. 1836330 1991
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. 9398839 1997
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease UNIPROT Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. 9398839 1997
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 AlteredExpression disease BEFREE Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. 9398839 1997
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. 9398839 1997
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. 9398840 1997
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE The autoimmune regulator (AIRE) gene responsible for APS1 on chromosome 21q22.3 has recently been identified. 9921903 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 Biomarker disease BEFREE Given its mapping position, C21orf2 is a candidate for involvement in disorders including autoimmune polyglandular disease type I (also called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy or APECED) and the autosomal nonsyndromic deafness loci, DFNB8 and DFNB10. 9465297 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE We and others have recently identified the gene for APECED, which we termed AIRE (for autoimmune regulator). 9717837 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. 9837820 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). 9921903 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease CLINVAR Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). 9921903 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease CLINVAR A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. 9837820 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE Multiple mutations in AIRE have been identified in APECED patients. 9735375 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the AIRE gene (responsible for APECED syndrome) can involve ovarian insufficiency. 9922102 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. 9856486 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE These results confirm the linkage of the candidate APS-1 gene to 21q22.3 in US APS-1 patients, and suggest that the candidate gene is located near the D21S1903 marker. 9650097 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease CLINVAR Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. 9717837 1998
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1). 10049587 1999
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlations for APS-1 remain difficult, suggesting that other genetic or environmental factors, or both, influence the clinical presentation and disease progression in individual APS-1 patients. 9888391 1999
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands. 9888391 1999
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 Biomarker disease BEFREE The gene for APECED has recently been identified and termed AIRE (for AutoImmune REgulator). 10049735 1999
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation disease UNIPROT Genotype-phenotype correlations for APS-1 remain difficult, suggesting that other genetic or environmental factors, or both, influence the clinical presentation and disease progression in individual APS-1 patients. 9888391 1999