Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11559290
rs11559290
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.010 GeneticVariation BEFREE These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations. 30709034 2019
dbSNP: rs1177389968
rs1177389968
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.020 GeneticVariation BEFREE Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD. 27935074 2017
dbSNP: rs1177389968
rs1177389968
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.020 GeneticVariation BEFREE These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations. 30709034 2019
dbSNP: rs1177389968
rs1177389968
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0410214
Disease:
Myopathy with Abnormal Lipid Metabolism 		0.010 GeneticVariation BEFREE High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 20370797 2010
dbSNP: rs121964953
rs121964953
Entrez Id: 2110;201725
Gene Symbol: ETFDH;C4orf46
ETFDH;C4orf46
CUI: C3278156
Disease:
GLUTARIC ACIDEMIA IIC 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation BEFREE These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations. 30709034 2019
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation UNIPROT Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 12815589 2003
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation BEFREE High resolution melting (HRM) analysis and sequencing of the entire ETFDH gene revealed a novel mutation (p.Phe128Ser) and the hotspot mutation (p.Ala84Thr) from a patient with MADD. 22013910 2011
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 CausalMutation CLINVAR Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 24357026 2014
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 CausalMutation CLINVAR ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 19249206 2009
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation UNIPROT High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 20370797 2010
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 CausalMutation CLINVAR High resolution melting (HRM) analysis and sequencing of the entire ETFDH gene revealed a novel mutation (p.Phe128Ser) and the hotspot mutation (p.Ala84Thr) from a patient with MADD. 22013910 2011
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 GeneticVariation CLINVAR
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation UNIPROT Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. 12359134 2003
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation UNIPROT The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732 2007
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation UNIPROT ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 19249206 2009
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation UNIPROT So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. 16527485 2006
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.830 GeneticVariation BEFREE Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD. 27935074 2017
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 CausalMutation CLINVAR Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD. 27935074 2017
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 CausalMutation CLINVAR Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 27000805 2016
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.830 CausalMutation CLINVAR Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations. 27270537 2016
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C3278156
Disease:
GLUTARIC ACIDEMIA IIC 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121964954
rs121964954
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0410214
Disease:
Myopathy with Abnormal Lipid Metabolism 		0.010 GeneticVariation BEFREE High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 20370797 2010
dbSNP: rs121964955
rs121964955
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
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
dbSNP: rs121964955
rs121964955
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
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