Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency SCO2 disease C1858424 GermlineCausalMutation 0.7 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency SCO2 disease C1858424 Biomarker 0.7 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency SCO2 disease C1858424 GeneticVariation 0.7 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency SCO2 disease C1858424 CausalMutation 0.7 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency COA6 disease C1858424 Biomarker 0.6 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency COA6 disease C1858424 GermlineCausalMutation 0.6 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency COX15 disease C1858424 GermlineCausalMutation 0.5 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency COX15 disease C1858424 Biomarker 0.5 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency COA5 disease C1858424 Biomarker 0.5 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency COA5 disease C1858424 GermlineCausalMutation 0.5 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency SCO1 disease C1858424 GermlineCausalMutation 0.3 disgenet
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency NCAPH2 disease C1858424 CausalMutation 0.1 disgenet
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