Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 Biomarker CLINGEN Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 Biomarker CLINGEN 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
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 Biomarker CLINGEN Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. 16121256

2005
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 Biomarker CLINGEN Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency. 1972503

1990
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 Biomarker CLINGEN Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme. 3968063

1985
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		1.000 Biomarker CLINGEN Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts. 6857268

1983