AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs179363875
rs179363875
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0001403
Disease:
Addison Disease
0.010 GeneticVariation BEFREE The R15C mutation was not detected in patients with idiopathic hypoparathyroidism (N= 10), idiopathic Addison's disease (N = 3), and normal subjects (N = 55). 12625412 2002