Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.140 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.140 GeneticVariation phenotype BEFREE We describe the first autopsy in fatal neonatal lethal lactic acidosis due to mutations in ACAD9 that reduced complex I activity. 26826406 2016
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.140 GeneticVariation phenotype BEFREE Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. 30025539 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.140 GeneticVariation phenotype BEFREE One infant with severe lactic acidosis was found to carry two heterozygous variants in ACAD9, which was associated with isolated complex I deficiency and diffuse hypergranular hepatocytes. 27483465 2016
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.140 GeneticVariation phenotype BEFREE Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. 28279569 2017
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 CTD_human
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 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 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 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 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 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 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 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 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation group BEFREE Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. 30025539 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 Biomarker group BEFREE Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10. 31473688 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation group BEFREE ACAD9 is an acyl-CoA dehydrogenase with a novel function in assembly of complex I; biallelic mutations cause progressive encephalomyopathy, recurrent Reye syndrome, and fatal cardiomyopathy. 26826406 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		0.100 Biomarker phenotype HPO
CUI: C0149854
Disease: Cerebellar hemorrhage
Cerebellar hemorrhage 		0.100 Biomarker phenotype HPO