Gene: ACADM ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 29519241 2018
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 28581210 2017
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838 2017
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease 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
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224 2016
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. 26215884 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. 25503862 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. 25763512 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887 2015
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. 24623196 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. 23810226 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease 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
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 CausalMutation disease CLINVAR Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. 24799540 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		1.000 GeneticVariation disease CLINVAR Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. 23829193 2014