SIAE, sialic acid acetylesterase, 54414

N. diseases: 30; N. variants: 13
Disease: Autoimmune Primary Adrenal Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		0.010 GeneticVariation disease BEFREE We demonstrated the presence of 89*V homozygotes and the 312*M rare allele in the AAD cohort, but overall, our analysis does not support a role for rare variants in SIAE in the pathogenesis of AAD. 23011869 2012