Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Charcot-Marie-Tooth disease, X-linked, 1 GJB1 disease C0393808 CausalMutation 1 orphanet , disgenet
Charcot-Marie-Tooth disease, X-linked, 1 GJB1 disease C0393808 Biomarker 1 orphanet , disgenet
Charcot-Marie-Tooth disease, X-linked, 1 GJB1 disease C0393808 AlteredExpression 1 orphanet , disgenet
Charcot-Marie-Tooth disease, X-linked, 1 GJB1 disease C0393808 GeneticVariation 1 orphanet , disgenet
Charcot-Marie-Tooth disease, X-linked, 1 RNMT disease C0393808 GeneticVariation 0.04 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 MPZ disease C0393808 GeneticVariation 0.04 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 PMP22 disease C0393808 GeneticVariation 0.03 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 PMP22 disease C0393808 Biomarker 0.03 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 TTR disease C0393808 GeneticVariation 0.01 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 SOX10 disease C0393808 Biomarker 0.01 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 TNF disease C0393808 Biomarker 0.01 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 PGK1 disease C0393808 GeneticVariation 0.01 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 DMPK disease C0393808 GeneticVariation 0.01 disgenet
Charcot-Marie-Tooth disease, X-linked, 1 IL6 disease C0393808 Biomarker 0.01 disgenet
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