Gene: ACADM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. 23810226 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. 24799540 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. 23829193 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease BEFREE About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). 23829193 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Fatty Acid oxidation disorders in a chinese population in taiwan. 23700290 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Personalized genomic disease risk of volunteers. 24082139 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Fatty Acid oxidation disorders in a chinese population in taiwan. 23700290 2013
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. 22796001 2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790 2012