Disease: Adrenal Insufficiency, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502131
Disease: Adrenal Insufficiency, Congenital
Adrenal Insufficiency, Congenital 		0.020 GeneticVariation disease BEFREE WES identified compound heterozygous variants in CYP11A1 including a novel canonical splice site variant (c.425+1G>A) and a previously reported p.E314K variant, which were consistent with a diagnosis of congenital adrenal insufficiency with partial 46XY sex reversal. 29178636 2017
CUI: C3502131
Disease: Adrenal Insufficiency, Congenital
Adrenal Insufficiency, Congenital 		0.020 GeneticVariation disease BEFREE This is the first report of the compound heterozygote for the CYP11A mutations with congenital adrenal insufficiency and the phenotypically normal heterozygote in humans. 12161514 2002