Disease Term Disease ID Gene Symbol Classification References Source
Hyperammonemia due to N-acetylglutamate synthase deficiency 927 NAGS Causal Pathogenic evidence from ClinVar - ClinVar
Hyperammonemia, type III C0268543 NAGS Causal Pathogenic evidence from ClinVar 5160402, 6223815, 12447942, 12594532, 12754705, 15714518, 15878741, 22503289, 27037498, 27604308 ClinVar