DisGeNET - a database of gene-disease associations

ACAD9, acyl-CoA dehydrogenase family member 9, 28976

N. diseases: 49; N. variants: 17

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:

rs1057518752

Entrez Id:	28976;57501
Gene Symbol:	ACAD9;KIAA1257

ACAD9;KIAA1257

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

CausalMutation

CLINVAR

dbSNP:

rs115532916

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

dbSNP:

rs115532916

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

20816094

2010

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.

20929961

2011

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

21057504

2010

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

17564966

2007

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

23996478

2014

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

23836383

2013

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs139145143

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

22499348

2012

dbSNP:

rs143383023

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

23836383

2013

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

21057504

2010

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

23996478

2014

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

17564966

2007

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

22499348

2012

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

20816094

2010

dbSNP:

rs1447947184

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.

20929961

2011

dbSNP:

rs149753643

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

dbSNP:

rs150283105

Entrez Id:	28976;57501
Gene Symbol:	ACAD9;KIAA1257

ACAD9;KIAA1257

CUI:	C0027497
Disease:

Nausea

0.010

GeneticVariation

BEFREE

We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys).

28279569

2017

dbSNP:

rs150283105

Entrez Id:	28976;57501
Gene Symbol:	ACAD9;KIAA1257

ACAD9;KIAA1257

CUI:	C0001125
Disease:

Acidosis, Lactic

0.010

GeneticVariation

BEFREE

28279569

2017

dbSNP:

rs368949613

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

22499348

2012

dbSNP:

rs368949613

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

23836383

2013