Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Combined Oxidative Phosphorylation Deficiency 5 MRPS22 disease C2673642 Biomarker 0.7 disgenet
Combined Oxidative Phosphorylation Deficiency 5 MRPS22 disease C2673642 CausalMutation 0.7 disgenet
Combined Oxidative Phosphorylation Deficiency 5 MRPS22 disease C2673642 GeneticVariation 0.7 disgenet
Combined Oxidative Phosphorylation Deficiency 5 MRPS22 disease C2673642 GermlineCausalMutation 0.7 disgenet
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