rs1567053134, CYP11A1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Serum creatinine raised
CUI: C0700225
Disease: Serum creatinine raised
0.700 CausalMutation CLINVAR
Decreased circulating cortisol level
CUI: C1836623
Disease: Decreased circulating cortisol level
0.700 CausalMutation CLINVAR
Fetal ascites
CUI: C1285291
Disease: Fetal ascites
0.700 CausalMutation CLINVAR
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 CausalMutation CLINVAR
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
0.700 CausalMutation CLINVAR
Hyponatremia
CUI: C0020625
Disease: Hyponatremia
0.700 CausalMutation CLINVAR
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
CUI: C3151055
Disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
0.700 CausalMutation CLINVAR
Adrenal hypoplasia
CUI: C1846223
Disease: Adrenal hypoplasia
0.700 CausalMutation CLINVAR