Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		0.100 Biomarker phenotype HPO
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1865292
Disease: Nonketotic hypoglycemia
Nonketotic hypoglycemia 		0.100 Biomarker phenotype HPO
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		0.100 Biomarker phenotype HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.100 Biomarker disease HPO
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		0.100 Biomarker phenotype HPO
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		0.100 Biomarker phenotype HPO
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		0.100 Biomarker phenotype HPO
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		0.100 Biomarker phenotype HPO
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.010 GeneticVariation disease BEFREE Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. 23836383 2013
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: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE ACAD9-mutated patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders. 27233227 2016
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.090 GeneticVariation disease BEFREE ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and confirmed by ACAD9 gene analysis. 27233227 2016
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.090 GeneticVariation disease BEFREE ACAD9 is an assembly factor for the mitochondrial respiratory chain complex I. ACAD9 mutations are recognized as frequent causes of complex I deficiency. 28279569 2017
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 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 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: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
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
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
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
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
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
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
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