AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Autoimmune polyendocrinopathy syndrome, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 Biomarker disease CTD_human
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 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: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). 10593569 1999
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the first multiple autoimmune disease that has been shown to be caused by mutations of a single gene named autoimmune regulator (AIRE). 10946904 2000
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by lack of functional products of the autoimmune regulator gene located on chromosome 21q22.3. 11134089 2000
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 Biomarker disease BEFREE Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). 11156688 2001
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. 11524731 2001
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene. 11524733 2001
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, OMIM 240300) is a rare autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21q22.3. 12050215 2002
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 Biomarker disease BEFREE Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity. 12398240 2002
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; APS-1) is an autosomal recessive autoimmune disease, caused by mutations in the AIRE (autoimmune regulator) gene. 12503856 2003
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE The autoimmune regulator (AIRE) is a gene where mutations cause the recessively inherited disorder called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy syndrome type 1 (APS1). 12595897 2003
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE We report the association of an undescribed, reversible metaphyseal dysplasia (RMD) with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in two patients, one homozygous and one heterozygous for a 13-bp deletion in exon 8 of the autoimmune regulator (AIRE) gene. 14557425 2003
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 Biomarker disease BEFREE AIRE gene region microsatellite markers did not segregate with disease nor were autoantibodies typical for autoimmune polyendocrine syndrome type 1 detected in the families. 15290270 2004
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 Biomarker disease BEFREE NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease. 15649886 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 Biomarker disease BEFREE As well as these general mechanisms, disease-specific mechanisms are beginning to be elucidated, for example the role of autoimmune regulatory element 1 (AIRE1) in autoimmune polyendocrinopathy-candidiasis ectodermal dystrophy (APECED). 15701924 2004
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Mutations in the autoimmune regulator (AIRE) protein are the causative factor in development of the human disease autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). 15790357 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease associated with mutations in the AIRE gene. 15886230 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune regulator (AIRE) gene is a responsible gene for the rare autosomal recessive autoimmune disease: autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy (APECED). 15894121 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases. 16114041 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the gene AIRE (autoimmune regulator). 16263818 2006
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy syndrome type 1 (APS1) is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene on chromosome 21. 16290093 2005
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Mutations in the autoimmune regulator (AIRE) gene cause a recessive Mendelian disorder autoimmune polyendocrinopathy syndrome type 1 (APS-1 or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy). 16552513 2006
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE In autoimmune polyendocrinopathy syndrome type 1 (APS1; OMIM 240300), recessive AIRE mutations lead to autoimmunity targetting endocrine and other epithelial tissues, although chronic candidiasis usually appears first. 16784312 2006
CUI: C3494489
Disease: Autoimmune polyendocrinopathy syndrome, type 1
Autoimmune polyendocrinopathy syndrome, type 1 		0.600 GeneticVariation disease BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, or APS1), is a monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. 16820279 2006