Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune Syndrome Type II, Polyglandular
0.340 GeneticVariation disease BEFREE Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation. 25402387 2016
Autoimmune Syndrome Type II, Polyglandular
0.340 Biomarker disease BEFREE Based on the coexistence of other autoimmune disorders, 65.6% of patients with A-AD were found to have type 2 autoimmune polyendocrine syndrome (APS2), 14.4% have APS1, and 8.5% have APS4. 24014553 2013
Autoimmune Syndrome Type II, Polyglandular
0.340 GeneticVariation disease BEFREE StCA were present in 22 of 38 with APS-1 (57.9%) (11 of 13 with POF); in five of 13 with APS-4 (38.5%) (three of four with POF); in 53 of 162 with APS-2 (32.7%) (17 of 26 with POF), and in one of 28 isolated AD patients (3.6%). 21677034 2011
Autoimmune Syndrome Type II, Polyglandular
0.340 GeneticVariation disease BEFREE They were undetectable in unaffected heterozygous relatives of APS1 probands (except for low titres against IFN-lambda1), in APS2 patients, and in isolated cases of the endocrine diseases most typical of APS1, so they appear to be APS1-specific. 16784312 2006
Autoimmune Syndrome Type II, Polyglandular
0.340 Biomarker disease CTD_human Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens. 16982213 2006