rs121434257, AIRE

N. diseases: 6
Disease: Polyglandular Type I Autoimmune Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies. 27426947 2016
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. 26084028 2015
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator. 19446523 2009
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. 18292755 2008
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease. 15649886 2005
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Two novel mutations of the AIRE protein affecting its homodimerization properties. 15712268 2005
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. 16114041 2005
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT APECED-causing mutations in AIRE reveal the functional domains of the protein. 14974083 2004
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. 12050215 2002
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. 11836330 2002
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. 12173302 2002
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. 12625412 2002
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 11275943 2001
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation BEFREE The G228W closely cosegregated with hypothyroid autoimmune thyroiditis in our family, whereas a low penetrance of the full autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype was observed. 11600535 2001
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain. 11274163 2001
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT APECED mutations in the autoimmune regulator (AIRE) gene. 11524731 2001
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. 11524733 2001
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT The G228W closely cosegregated with hypothyroid autoimmune thyroiditis in our family, whereas a low penetrance of the full autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype was observed. 11600535 2001
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. 10677297 2000
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Mutation analyses of North American APS-1 patients. 9888391 1999
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
0.710 GeneticVariation UNIPROT Positional cloning of the APECED gene. 9398839 1997