PYY, peptide YY, 5697

N. diseases: 88; N. variants: 14
Disease: Hyperammonemia, type III ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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