ATP5F1D, ATP synthase F1 subunit delta, 513

N. diseases: 69; N. variants: 2
Disease: Hyperammonemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 GeneticVariation phenotype BEFREE Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. 29478781 2018
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker phenotype HPO