Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368949613
rs368949613
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs387907041
rs387907041
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs387907042
rs387907042
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs368949613
rs368949613
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. 23996478 2014
dbSNP: rs387907041
rs387907041
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. 23996478 2014
dbSNP: rs387907042
rs387907042
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. 23996478 2014
dbSNP: rs368949613
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
dbSNP: rs387907041
rs387907041
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
dbSNP: rs387907042
rs387907042
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
dbSNP: rs368949613
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: rs387907041
rs387907041
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: rs387907042
rs387907042
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
rs368949613
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. 20929961 2011
dbSNP: rs387907041
rs387907041
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. 20929961 2011
dbSNP: rs387907042
rs387907042
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. 20929961 2011
dbSNP: rs368949613
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
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
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
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
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
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
dbSNP: rs368949613
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
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
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: rs115532916
rs115532916
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 GeneticVariation UNIPROT