Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.
|
16750164 |
2006 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.
|
16020546 |
2005 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
|
21057504 |
2010 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
|
26669660 |
2016 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
|
25721401 |
2015 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
AlteredExpression
|
disease |
BEFREE |
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
|
25721401 |
2015 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
GermlineCausalMutation
|
disease |
ORPHANET |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
|
12359260 |
2002 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
|
21057504 |
2010 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
|
20816094 |
2010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
|
21057504 |
2010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
|
30025539 |
2018 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
|
20929961 |
2011 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
|
23836383 |
2013 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
|
20816094 |
2010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.
|
23996478 |
2014 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |