Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
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
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		0.610 Biomarker disease CTD_human