Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP disease C0872218 Biomarker 0.6 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP disease C0872218 AlteredExpression 0.6 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP disease C0872218 GermlineCausalMutation 0.6 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP disease C0872218 GeneticVariation 0.6 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome RRM2B disease C0872218 GermlineCausalMutation 0.31 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome RRM2B disease C0872218 GeneticVariation 0.31 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome POLG disease C0872218 GermlineCausalMutation 0.3 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome SCO2 disease C0872218 GeneticVariation 0.09 disgenet
Mitochondrial neurogastrointestinal encephalopathy syndrome SCO2 disease C0872218 AlteredExpression 0.09 disgenet
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