Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Charcot-Marie-Tooth disease, Type 2B RAB7A disease C1833219 CausalMutation 0.8 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 2B RAB7A disease C1833219 AlteredExpression 0.8 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 2B RAB7A disease C1833219 Biomarker 0.8 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 2B RAB7A disease C1833219 GeneticVariation 0.8 orphanet , disgenet
Charcot-Marie-Tooth disease, Type 2B RAB7B disease C1833219 GeneticVariation 0.1 disgenet
Charcot-Marie-Tooth disease, Type 2B RAB7B disease C1833219 Biomarker 0.1 disgenet
Charcot-Marie-Tooth disease, Type 2B RAB7B disease C1833219 AlteredExpression 0.1 disgenet
Charcot-Marie-Tooth disease, Type 2B SPTLC1 disease C1833219 Biomarker 0.03 disgenet
Charcot-Marie-Tooth disease, Type 2B SPTLC1 disease C1833219 GeneticVariation 0.03 disgenet
Charcot-Marie-Tooth disease, Type 2B DNM2 disease C1833219 GeneticVariation 0.02 disgenet
Charcot-Marie-Tooth disease, Type 2B DNM2 disease C1833219 Biomarker 0.02 disgenet
Charcot-Marie-Tooth disease, Type 2B RAB18 disease C1833219 GeneticVariation 0.01 disgenet
Charcot-Marie-Tooth disease, Type 2B NGF disease C1833219 Biomarker 0.01 disgenet
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