CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761225695
rs761225695
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		T 0.700 GeneticVariation CLINVAR Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. 12655559 2003