Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. 26669660

2016
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. 25721401

2015
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. 21057504

2010
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. 20816094

2010
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. 17564966

2007
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. 16750164

2006
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. 16020546

2005
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker CLINGEN Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family. 12359260

2002