rs121434278, ACADM

N. diseases: 3
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency ×
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
0.810 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.810 GeneticVariation UNIPROT Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. 2394825 1990
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.810 GeneticVariation UNIPROT Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. 1363805 1992