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 Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 15832312

2005

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. 7730333

1995

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. 19649258

2009

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. 18241067

2008

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? 9158144

1997

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain). 23430840

2011

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. 7730333

1995

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

2013

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. 16763904

2007

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario. 21083904

2010

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010

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 CausalMutation CLINVAR The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. 15479234

2004

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR As in other metabolic disorders, the distinction between "normal" and "disease" in MCAD deficiency is blurring into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing. 11409868

2001

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population. 21483992

2011

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 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 CausalMutation CLINVAR Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency. 7652482

1995

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). 8102510

1993

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 GeneticVariation CLINVAR Protein sequences encode safeguards against aggregation. 19156839

2009

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 GeneticVariation CLINVAR A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. 7929823

1994

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

Entrez Id: 34
Gene Symbol: ACADM
ACADM
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 7904584

1994