Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907170
rs387907170
ETFDH
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 20370797

2010
dbSNP: rs387907170
rs387907170
ETFDH
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 19249206

2009
dbSNP: rs387907170
rs387907170
ETFDH
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732

2007
dbSNP: rs387907170
rs387907170
ETFDH
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. 16527485

2006
dbSNP: rs387907170
rs387907170
ETFDH
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. 12359134

2003
dbSNP: rs387907170
rs387907170
ETFDH
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 12815589

2003