DisGeNET - a database of gene-disease associations

ETFDH, electron transfer flavoprotein dehydrogenase, 2110

N. diseases: 59; N. variants: 32

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387907170

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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:

rs121964956

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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:

rs377656387

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

CausalMutation

CLINVAR

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

17412732

2007

dbSNP:

rs377656387

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

CausalMutation

CLINVAR

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

17584774

2007

dbSNP:

rs377686388

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

CLINVAR

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

17584774

2007

dbSNP:

rs387907170

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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:

rs398124152

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

CausalMutation

CLINVAR

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

17584774

2007

dbSNP:

rs398124152

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

CausalMutation

CLINVAR

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

17412732

2007

dbSNP:

rs121964956

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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:

rs121964956

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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:

rs121964956

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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

dbSNP:

rs377686388

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

CLINVAR

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

12359134

2003

dbSNP:

rs387907170

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

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

dbSNP:

rs398124152

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

CausalMutation

CLINVAR

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

12359134

2003

dbSNP:

rs121964956

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

CLINVAR

dbSNP:

rs377656387

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs377686388

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907170

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs398124152

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs779896449

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs779896449

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.800

GeneticVariation

CLINVAR

dbSNP:

rs549150456

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.710

GeneticVariation

BEFREE

Homozygous patients containing the ETFDH mutations p.X618QextX*14, c.34+5G>C and ETF:QO-p.Arg155Gly, all presented severe (lethal) MADD phenotypes.

31418342

2019

dbSNP:

rs549150456

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

CUI:	C0268596
Disease:

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

0.710

GeneticVariation

CLINVAR