Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GermlineCausalMutation ORPHANET A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. 23342054

2013
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GermlineCausalMutation ORPHANET Autoimmune polyendocrine syndrome type 1: case report and review of literature. 22460196

2012