NAGS, N-acetylglutamate synthase, 162417

N. diseases: 58; N. variants: 18
Disease: Hyperammonemia, type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease BEFREE N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. 30337552 2018
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498 2016
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease UNIPROT Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498 2016
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease BEFREE The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment. 27771289 2016
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease BEFREE We evaluated a patient with NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment. 25787344 2015
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase. 22503289 2012
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease UNIPROT In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency. 15878741 2005
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN These studies provide a better understanding of the function of NAGS, and the mechanisms for deleterious effect of mutations causing inherited NAGS deficiency. 15714518 2005
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease BEFREE These studies provide a better understanding of the function of NAGS, and the mechanisms for deleterious effect of mutations causing inherited NAGS deficiency. 15714518 2005
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease BEFREE In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency. 15878741 2005
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease UNIPROT Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease CLINVAR The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency. 12594532 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency. 12594532 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease GENOMICS_ENGLAND The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency. 12594532 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CTD_human The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency. 12594532 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 GeneticVariation disease BEFREE The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency. 12594532 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CTD_human Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705 2003
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. 12447942 2002
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN Mitochondrial carbamoyl phosphate synthetase activity in the absence of N-acetyl-L-glutamate. Mechanism of activation by this cofactor. 6223815 1983
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease CLINGEN Enzymatic synthesis of acetylglutamate by mammalian liver preparations and its stimulation by arginine. 5160402 1971
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III 		0.760 CausalMutation disease CLINVAR