AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
0.020 Biomarker disease BEFREE Based on our well-established electrochemiluminescence (ECL) assay platform, we developed a multiplexed ECL assay that combines 7 individual autoantibody assays together in one single well to simultaneously screen T1D, and three other autoimmune diseases including celiac disease, autoimmune thyroid disease and autoimmune poly-glandular syndrome-1 (APS-1). 31447394 2019
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
0.020 GeneticVariation disease BEFREE Recent advances suggest that certain mutations located in the SAND and PHD1 domains exert a dominant negative effect on wild type AIRE resulting in milder seemingly common forms of autoimmune diseases, including pernicious anemia, vitiligo and autoimmune thyroid disease. 27504588 2016