DisGeNET - a database of gene-disease associations

Medium-chain acyl-coenzyme A dehydrogenase deficiency, C0220710

Variant: rs200724875 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

CLINVAR

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

29519241

2018

dbSNP:

rs200724875

ACADM ; DLSTP1

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:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

CLINVAR

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

27856190

2016

dbSNP:

rs200724875

ACADM ; DLSTP1

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:

rs200724875

ACADM ; DLSTP1

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:

rs200724875

ACADM ; DLSTP1

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:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

CLINVAR

Protein sequences encode safeguards against aggregation.

19156839

2009

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

CLINVAR

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

18450854

2008

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

CLINVAR

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

16291504

2006

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

11349232

2001

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Molecular and functional characterisation of mild MCAD deficiency.

11409868

2001

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

11486912

2001

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

10767181

2000

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

CLINVAR

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

10767181

2000

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

9882619

1999

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

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:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

7603790

1995

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

8198141

1994

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

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

7929823

1994

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

1363805

1992

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

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:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Frequency of the G985 MCAD mutation in the general population.

1671131

1991

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

1902818

1991

dbSNP:

rs200724875

ACADM ; DLSTP1

0.800

GeneticVariation

UNIPROT

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

2251268

1990

dbSNP: