Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Medium-chain Acyl-CoA dehydrogenase deficiency ACADM disease C0220710 CausalMutation 1 orphanet , disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency ACADM disease C0220710 Biomarker 1 orphanet , disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency ACADM disease C0220710 GeneticVariation 1 orphanet , disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency ACADM disease C0220710 AlteredExpression 1 orphanet , disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CDH15 disease C0220710 AlteredExpression 0.02 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CDH15 disease C0220710 GeneticVariation 0.02 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency TSPO disease C0220710 AlteredExpression 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CPT2 disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency KIT disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CPT1B disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency ARSA disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CHPT1 disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency SLC17A5 disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CPT1A disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency CHKB-CPT1B disease C0220710 GeneticVariation 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency PART1 disease C0220710 Biomarker 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency SOCS6 disease C0220710 Biomarker 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency ACADS disease C0220710 Biomarker 0.01 disgenet
Medium-chain Acyl-CoA dehydrogenase deficiency NPHS1 disease C0220710 GeneticVariation 0.01 disgenet
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