Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498

2016

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase. 22503289

2012

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker 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

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705

2003

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency. 12594532

2003

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. 12447942

2002

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN Mitochondrial carbamoyl phosphate synthetase activity in the absence of N-acetyl-L-glutamate. Mechanism of activation by this cofactor. 6223815

1983

Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease: Hyperammonemia, type III
Hyperammonemia, type III
0.760 Biomarker CLINGEN Enzymatic synthesis of acetylglutamate by mammalian liver preparations and its stimulation by arginine. 5160402

1971