Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Charcot-Marie-Tooth disease, Type 4E EGR2 disease C0393818 AlteredExpression 0.4 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 4E EGR2 disease C0393818 Biomarker 0.4 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 4E EGR2 disease C0393818 GeneticVariation 0.4 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 4E MPZ disease C0393818 Biomarker 0.2 disgenet
Charcot-Marie-Tooth disease, Type 4E MPZ disease C0393818 CausalMutation 0.2 disgenet
Charcot-Marie-Tooth disease, Type 4E MPZ disease C0393818 GeneticVariation 0.2 disgenet
Charcot-Marie-Tooth disease, Type 4E PMP22 disease C0393818 Biomarker 0.05 disgenet
Charcot-Marie-Tooth disease, Type 4E PMP22 disease C0393818 GeneticVariation 0.05 disgenet
Charcot-Marie-Tooth disease, Type 4E CNTNAP1 disease C0393818 GeneticVariation 0.04 disgenet
Charcot-Marie-Tooth disease, Type 4E CNTNAP1 disease C0393818 Biomarker 0.04 disgenet
Charcot-Marie-Tooth disease, Type 4E RNMT disease C0393818 Biomarker 0.03 disgenet
Charcot-Marie-Tooth disease, Type 4E RNMT disease C0393818 GeneticVariation 0.03 disgenet
Charcot-Marie-Tooth disease, Type 4E NAB1 disease C0393818 Biomarker 0.01 disgenet
Charcot-Marie-Tooth disease, Type 4E NAB2 disease C0393818 Biomarker 0.01 disgenet
Charcot-Marie-Tooth disease, Type 4E SOX10 disease C0393818 GeneticVariation 0.01 disgenet
Charcot-Marie-Tooth disease, Type 4E NRG1 disease C0393818 Biomarker 0.01 disgenet
Charcot-Marie-Tooth disease, Type 4E MAD2L1BP disease C0393818 GeneticVariation 0.01 disgenet
Charcot-Marie-Tooth disease, Type 4E KIF1B disease C0393818 GeneticVariation 0.01 disgenet
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