Disease: Hyperammonemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.130 GeneticVariation phenotype LHGDN Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. 14759633 2004
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.130 GeneticVariation phenotype LHGDN Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. 11668643 2001
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.130 AlteredExpression phenotype BEFREE ORNT1 expression restores ornithine metabolism in fibroblasts from patients with hyperammonaemia-hyperornithinaemia-homocitrullinuria (HHH) syndrome. 10369256 1999
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.130 Biomarker phenotype HPO