rs398123072, ACADM

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. 24623196 2014
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380 2010
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. 19649258 2009
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 15832312 2005
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells. 8535441 1995
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 CausalMutation CLINVAR A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). 8102510 1993
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.700 GeneticVariation CLINVAR A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). 8102510 1993