Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease. 25333063

2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence. 24998633

2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. 24623196

2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 24294134

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Fatty Acid oxidation disorders in a chinese population in taiwan. 23700290

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. 23842438

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Fatty Acid oxidation disorders in a chinese population in taiwan. 23700290

2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. 22796001

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 22630369

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR MCAD deficiency in Denmark. 22542437

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. 22796001

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant. 22683754

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 22630369

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR MCAD deficiency in Denmark. 22542437

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. 22848008

2012