CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: Comatose ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009421
Disease: Comatose
Comatose 		0.400 Biomarker phenotype CTD_human Late clinical presentation of partial carbamyl phosphate synthetase I deficiency. 8438805 1993
CUI: C0009421
Disease: Comatose
Comatose 		0.400 Biomarker phenotype HPO