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: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function. 24813853 2014
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. 23649895 2013
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 22173106 2012
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. 21120950 2011
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis. 20578160 2010
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. 17310273 2007
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. 16737834 2006
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Genetic approach to prenatal diagnosis in urea cycle defects. 15164414 2004
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. 15617192 2004
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. 12655559 2003
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 12955727 2003
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. 11474210 2001
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. 11388595 2001
dbSNP: rs1553513870
rs1553513870
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 GeneticVariation UNIPROT Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. 9711878 1998