Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intermittent lactic acidemia
CUI: C1844917
Disease: Intermittent lactic acidemia
0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018