Carbamoyl phosphate synthase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Carbamoyl Phosphate Synthase 1 Deficiency C4085580 CPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8486760, 17310273 -
Carbamoyl-Phosphate Synthase I Deficiency Disease C0751753 CPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3545062, 8486760, 9711878, 9862865, 12655559, 15617192, 17310273, 19793055, 20800523, 22173106, 27150549, 27834067, 29801986 -
Carbamoyl-phosphate synthetase 1 deficiency 147 CPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency C4082171 CPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8486760, 9686343, 9711878, 11388595, 11474210, 12655559, 12955727, 15164414, 15617192, 15876373, 16737834, 17310273, 19793055, 20578160, 20855223, 21120950, 22173106, 23649895, 24813853, 24816252, 26440671, 27150549, 27604308, 28007335, 28526534 -