NAGS, N-acetylglutamate synthase, 162417

N. diseases: 58; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1204011876
rs1204011876
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498 2016
dbSNP: rs760267963
rs760267963
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498 2016
dbSNP: rs1204011876
rs1204011876
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 15878741 2005
dbSNP: rs760267963
rs760267963
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 15878741 2005
dbSNP: rs1204011876
rs1204011876
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705 2003
dbSNP: rs202041339
rs202041339
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		C 0.700 GeneticVariation CLINVAR Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. 12594532 2003
dbSNP: rs760267963
rs760267963
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705 2003
dbSNP: rs104894604
rs104894604
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894607
rs104894607
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912591
rs121912591
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1251891037
rs1251891037
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT
dbSNP: rs1312599995
rs1312599995
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT
dbSNP: rs1567941557
rs1567941557
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		CAGATCGGAAGA 0.700 GeneticVariation CLINVAR
dbSNP: rs730880266
rs730880266
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		C 0.700 CausalMutation CLINVAR
dbSNP: rs730880267
rs730880267
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		T 0.700 CausalMutation CLINVAR
dbSNP: rs730880303
rs730880303
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs745511282
rs745511282
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT
dbSNP: rs752415489
rs752415489
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.700 GeneticVariation UNIPROT
dbSNP: rs755257734
rs755257734
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1188223411
rs1188223411
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.710 GeneticVariation BEFREE In this study, another three families affected by NAGSD were analyzed for NAGS gene mutations resulting in the identification of three novel missense mutations (C200R [c.598T > C], S410P [c.1228T > C], A518T [c.1552G > A]). 15878741 2005
dbSNP: rs1188223411
rs1188223411
Entrez Id: 5697;162417
Gene Symbol: PYY;NAGS
PYY;NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.710 GeneticVariation UNIPROT
dbSNP: rs104894605
rs104894605
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.800 GeneticVariation UNIPROT Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498 2016
dbSNP: rs104894606
rs104894606
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.800 GeneticVariation UNIPROT Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498 2016
dbSNP: rs104894605
rs104894605
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.800 GeneticVariation UNIPROT Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 15878741 2005
dbSNP: rs104894606
rs104894606
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
CUI: C0268543
Disease:
Hyperammonemia, type III 		0.800 GeneticVariation UNIPROT Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 15878741 2005