Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		0.100 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018