rs121964955, ETFDH

N. diseases: 2
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 20370797 2010
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 19249206 2009
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732 2007
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. 16527485 2006
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. 12359134 2003
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 12815589 2003