AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Progressive Muscular Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		0.010 GeneticVariation disease BEFREE 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