rs1454328072, CYP11A1

N. diseases: 3
Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adrenal gland hypofunction
CUI: C0001623
Disease: Adrenal gland hypofunction
0.010 GeneticVariation BEFREE Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X). 22968487 2012