Gene: ACADM ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 CausalMutation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014

2013
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
dbSNP: rs121434281
rs121434281
ACADM
T 0.800 GeneticVariation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
dbSNP: rs747268471
rs747268471
ACADM
A 0.800 CausalMutation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 CausalMutation CLINVAR MCAD deficiency in Denmark. 22542437

2012
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 CausalMutation CLINVAR Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. 22848008

2012
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 CausalMutation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. 22848008

2012
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 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
dbSNP: rs121434281
rs121434281
ACADM
T 0.800 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
dbSNP: rs747268471
rs747268471
ACADM
A 0.800 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
dbSNP: rs786204631
rs786204631
ACADM
C 0.800 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. 22166308

2011
dbSNP: rs121434281
rs121434281
ACADM
T 0.800 GeneticVariation CLINVAR Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism. 21704015

2011
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 GeneticVariation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010