Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014

2013
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		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
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR MCAD deficiency in Denmark. 22542437

2012
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		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: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		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
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. 16291504

2006
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 15832312

2005
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Molecular and functional characterisation of mild MCAD deficiency. 11409868

2001
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation 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
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 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
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. 1684086

1991
dbSNP: rs121434274
rs121434274
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. 1684086

1991