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

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:

rs863224844

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

CLINVAR

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

30025539

2018

dbSNP:

rs863224844

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

CLINVAR

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

28529009

2017

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:

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:

rs777282696

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:

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

26741492

2016

dbSNP:

rs863224844

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

CLINVAR

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

26669660

2016

dbSNP:

rs863224844

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

CLINVAR

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

25721401

2015

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:

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:

rs777282696

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:

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

23996478

2014

dbSNP:

rs863224844

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

CUI:	C4747517
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20

0.700

GeneticVariation

CLINVAR

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

25326637

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:

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:

rs777282696

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:

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

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

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

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

22499348

2012