Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Roberts Syndrome ESCO2 disease C0392475 AlteredExpression 0.8 orphanet , disgenet
Roberts Syndrome ESCO2 disease C0392475 Biomarker 0.8 orphanet , disgenet
Roberts Syndrome ESCO2 disease C0392475 GeneticVariation 0.8 orphanet , disgenet
Roberts Syndrome ESCO2 disease C0392475 CausalMutation 0.8 orphanet , disgenet
Roberts Syndrome SMC3 disease C0392475 Biomarker 0.02 disgenet
Roberts Syndrome NIPBL disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome MELTF disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome ESCO1 disease C0392475 GeneticVariation 0.01 disgenet
Roberts Syndrome MT1L disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome SS18L1 disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome RORC disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome FTMT disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome ZW10 disease C0392475 Biomarker 0.01 disgenet
Roberts Syndrome DDX11 disease C0392475 Biomarker 0.01 disgenet
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