rs867410737, ATP5F1D

N. diseases: 45
Disease: Decreased activity of mitochondrial ATP synthase complex ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Decreased activity of mitochondrial ATP synthase complex
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018