AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Primary Adrenal Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		0.010 GeneticVariation disease BEFREE Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. 28911151 2017