Gene: ACADM ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR High 985A-->G carrier frequencies in populations of European descent and the usual avoidance of recurrent disease episodes by patients diagnosed with MCAD deficiency who comply with a simple dietary treatment suggest that MCAD deficiency is a candidate in prospective screening of newborns. 11349232

2001
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Four groups were studied: (1) 35 children, aged 4 days to 16.2 years, with proven MCAD deficiency (mostly homozygous for the A985G mutation, none receiving carnitine supplements); (2) 2168 control children; (3) 482 neonates; and (4) 15 MCAD heterozygotes. 9797589

1998
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 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
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency. 7652482

1995
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 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
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR The influence of co-overexpression of the bacterial chaperonins GroEL and GroES on solubility, tetramer formation and enzyme activity of three variants of heterologously-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) was analysed in order to investigate the molecular mechanism underlying MCAD deficiency caused by the prevalent K304E mutation. 8104486

1993
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. 2393404

1990
dbSNP: rs77931234
rs77931234
ACADM
C 0.900 CausalMutation CLINVAR

dbSNP: rs121434278
rs121434278
ACADM
A 0.810 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 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
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 GeneticVariation CLINVAR The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario. 21083904

2010
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 GeneticVariation 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
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. 16291504

2006
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. 16291504

2006
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 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: rs121434278
rs121434278
ACADM
A 0.810 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: rs121434278
rs121434278
ACADM
A 0.810 CausalMutation CLINVAR Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. 7603790

1995
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 GeneticVariation CLINVAR Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life. 7929823

1994
dbSNP: rs121434278
rs121434278
ACADM
A 0.810 CausalMutation CLINVAR Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life. 7929823

1994
dbSNP: rs200724875
rs200724875
ACADM ; DLSTP1
A 0.800 GeneticVariation CLINVAR Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 29519241

2018
dbSNP: rs200724875
rs200724875
ACADM ; DLSTP1
A 0.800 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
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs200724875
rs200724875
ACADM ; DLSTP1
A 0.800 GeneticVariation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016
dbSNP: rs200724875
rs200724875
ACADM ; DLSTP1
T 0.800 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016
dbSNP: rs121434274
rs121434274
ACADM
A 0.800 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015