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

2005
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR In mass-screened newborn populations, the 985A>G (K329E) mutation accounts for 54-90% of disease alleles, with homozygotes representing about 47-80% of MCAD deficiency cases. 16763904

2007
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 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
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. 19224950

2009
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
G 0.900 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
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. 16737882

2006
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 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 Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease. 25333063

2014
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. 23842438

2013
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. 24623196

2014
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD). 20333879

2009
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 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: rs77931234
rs77931234
ACADM
G 0.900 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
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence. 24998633

2014
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 In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. 19780764

2009
dbSNP: rs77931234
rs77931234
ACADM
C 0.900 CausalMutation CLINVAR

dbSNP: rs77931234
rs77931234
ACADM
G 0.900 CausalMutation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
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 Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012