rs121434257, AIRE

N. diseases: 6
Disease: Hypothyroidism, Autoimmune ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypothyroidism, Autoimmune
CUI: C0342158
Disease: Hypothyroidism, Autoimmune
0.010 GeneticVariation BEFREE Strikingly, in one family with few typical APS-I features, these antibodies cosegregated over three generations with autoimmune hypothyroidism plus a dominant-negative G228W AIRE substitution. 18728167 2008