CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		A 0.800 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs1553513429
rs1553513429
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		C 0.800 GeneticVariation CLINVAR Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. 28007335 2017
dbSNP: rs715
rs715
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0337428
Disease:
Fibrinogen assay 		0.800 GeneticVariation GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
dbSNP: rs121912592
rs121912592
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs121912595
rs121912595
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs1553512642
rs1553512642
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs1553512642
rs1553512642
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		A 0.800 GeneticVariation CLINVAR Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency. 27150549 2016
dbSNP: rs1553513429
rs1553513429
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs1553513864
rs1553513864
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs28940283
rs28940283
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs715
rs715
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0337428
Disease:
Fibrinogen assay 		C 0.800 GeneticVariation GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
dbSNP: rs772497399
rs772497399
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 GeneticVariation UNIPROT Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. 26440671 2016
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C2242817
Disease:
Homocysteine measurement 		A 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. 24651765 2014
dbSNP: rs121912592
rs121912592
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs121912595
rs121912595
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs1553512642
rs1553512642
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs1553513429
rs1553513429
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs1553513864
rs1553513864
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs28940283
rs28940283
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs772497399
rs772497399
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C4082171
Disease:
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.800 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: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C2242817
Disease:
Homocysteine measurement 		A 0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013