CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: Psychogenic coma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0860634
Disease: Psychogenic coma
Psychogenic coma 		0.300 Biomarker phenotype CTD_human Late clinical presentation of partial carbamyl phosphate synthetase I deficiency. 8438805 1993