rs557052809, ATP1A3

N. diseases: 5
Disease: Congenital hypoplasia of adrenal gland ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
0.010 GeneticVariation BEFREE Our case suggests that the phenotype of AHC with p.G755S mutation is not necessarily mild, despite such a presentation during the patient's younger years. 29269014 2018