ATP5F1E, ATP synthase F1 subunit epsilon, 514

N. diseases: 37; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906929
rs387906929
Entrez Id: 514;100533975
Gene Symbol: ATP5F1E;SLMO2-ATP5E
ATP5F1E;SLMO2-ATP5E
CUI: C3279708
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		0.800 GeneticVariation UNIPROT Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710 2010
dbSNP: rs387906929
rs387906929
Entrez Id: 514;100533975
Gene Symbol: ATP5F1E;SLMO2-ATP5E
ATP5F1E;SLMO2-ATP5E
CUI: C3279708
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		C 0.800 CausalMutation CLINVAR