Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150283105
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
rs150283105
Entrez Id: 28976;57501
Gene Symbol: ACAD9;KIAA1257
ACAD9;KIAA1257
CUI: C0001125
Disease:
Acidosis, Lactic 		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: rs763004980
rs763004980
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C0001125
Disease:
Acidosis, Lactic 		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: rs763004980
rs763004980
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
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: rs115532916
rs115532916
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.800 CausalMutation CLINVAR
dbSNP: rs368949613
rs368949613
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		T 0.800 CausalMutation CLINVAR
dbSNP: rs377022708
rs377022708
Entrez Id: 28976;57501
Gene Symbol: ACAD9;KIAA1257
ACAD9;KIAA1257
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907041
rs387907041
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907042
rs387907042
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518752
rs1057518752
Entrez Id: 28976;57501
Gene Symbol: ACAD9;KIAA1257
ACAD9;KIAA1257
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		G 0.700 CausalMutation CLINVAR
dbSNP: rs762521317
rs762521317
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637 2014
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 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: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? 30025539 2018
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. 26669660 2016
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 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: rs115532916
rs115532916
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.800 GeneticVariation UNIPROT
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: 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: 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: 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: 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 A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. 17564966 2007
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: 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