Gene: ATP5F1D ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.110 GeneticVariation group BEFREE Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation. 29478781 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.110 CausalMutation group CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018