Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 29519241

2018

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 28581210

2017

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. 27943070

2017

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224

2016

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. 26215884

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. 25503862

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. 25763512

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. 23574375

2014

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. 24799540

2014

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

2014

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. 23829193

2014