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:

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:

rs368949613

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs377022708

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

ACAD9;KIAA1257

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

dbSNP:

rs377022708

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

ACAD9;KIAA1257

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907041

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907042

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

CausalMutation

CLINVAR

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:

rs143383023

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

dbSNP:

rs149753643

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

dbSNP:

rs377547811

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

UNIPROT

dbSNP:

rs762521317

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

CausalMutation

CLINVAR

dbSNP:

rs368949613

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

17564966

2007

dbSNP:

rs387907041

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

17564966

2007

dbSNP:

rs387907042

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

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 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

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

17564966

2007

dbSNP:

rs777282696

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:

rs781149699

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

ACAD9;KIAA1257

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:

rs368949613

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

21057504

2010

dbSNP:

rs368949613

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

20816094

2010

dbSNP:

rs387907041

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

20816094

2010

dbSNP:

rs387907041

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

21057504

2010

dbSNP:

rs387907042

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

20816094

2010

dbSNP:

rs387907042

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.800

GeneticVariation

UNIPROT

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

21057504

2010