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 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

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

2017

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

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

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism. 24966162

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 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

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: 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 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

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

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
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

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
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

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 Mutations in the ACADM gene cause MCAD deficiency presenting with life-threatening symptoms during catabolism. 24966162

2015

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR 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
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

2014

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

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 The implementation of expanded newborn screening programs reduced mortality and morbidity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by mutations in the ACADM gene. 24718418

2014

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR The implementation of expanded newborn screening programs reduced mortality and morbidity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by mutations in the ACADM gene. 24718418

2014

Entrez Id: 34
Gene Symbol: ACADM
ACADM
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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. 24799540

2014

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

2013

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR An emergency regimen and parental instructions remain necessary in all subjects with MCAD deficiency, regardless of residual MCAD enzyme activity. 23509891

2013

Entrez Id: 34
Gene Symbol: ACADM
ACADM
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