rs1553127172, 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 CausalMutation 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 CausalMutation CLINVAR Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. 8198141 1994