rs867410737, ATP5F1D

N. diseases: 45
Disease: Episodic metabolic acidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Episodic metabolic acidosis
CUI: C1859516
Disease: Episodic metabolic acidosis
0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018