Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Tomaculous neuropathy PMP22 disease C0393814 GeneticVariation 1 orphanet , disgenet
Tomaculous neuropathy PMP22 disease C0393814 CausalMutation 1 orphanet , disgenet
Tomaculous neuropathy PMP22 disease C0393814 ChromosomalRearrangement 1 orphanet , disgenet
Tomaculous neuropathy PMP22 disease C0393814 GermlineCausalMutation 1 orphanet , disgenet
Tomaculous neuropathy PMP22 disease C0393814 Biomarker 1 orphanet , disgenet
Tomaculous neuropathy PMP22 disease C0393814 AlteredExpression 1 orphanet , disgenet
Tomaculous neuropathy MPZ disease C0393814 Biomarker 0.1 disgenet
Tomaculous neuropathy RNMT disease C0393814 Biomarker 0.1 disgenet
Tomaculous neuropathy MPZ disease C0393814 GeneticVariation 0.1 disgenet
Tomaculous neuropathy RNMT disease C0393814 GeneticVariation 0.1 disgenet
Tomaculous neuropathy PXMP2 disease C0393814 AlteredExpression 0.05 disgenet
Tomaculous neuropathy PXMP2 disease C0393814 GeneticVariation 0.05 disgenet
Tomaculous neuropathy KIF1B disease C0393814 Biomarker 0.04 disgenet
Tomaculous neuropathy KIF1B disease C0393814 GeneticVariation 0.04 disgenet
Tomaculous neuropathy GJB1 disease C0393814 GeneticVariation 0.04 disgenet
Tomaculous neuropathy MAD2L1BP disease C0393814 GeneticVariation 0.03 disgenet
Tomaculous neuropathy MAD2L1BP disease C0393814 Biomarker 0.03 disgenet
Tomaculous neuropathy LOC105943586 disease C0393814 Biomarker 0.02 disgenet
Tomaculous neuropathy LITAF disease C0393814 GeneticVariation 0.02 disgenet
Tomaculous neuropathy ARHGEF10 disease C0393814 Biomarker 0.01 disgenet
Tomaculous neuropathy EXOSC6 disease C0393814 Biomarker 0.01 disgenet
Tomaculous neuropathy AR disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy COX10 disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy LY96 disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy LOC105943587 disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy MBP disease C0393814 AlteredExpression 0.01 disgenet
Tomaculous neuropathy RAI1 disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy MFN2 disease C0393814 Biomarker 0.01 disgenet
Tomaculous neuropathy EGR2 disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy ENDOU disease C0393814 Biomarker 0.01 disgenet
Tomaculous neuropathy GLB1 disease C0393814 Biomarker 0.01 disgenet
Tomaculous neuropathy REEP1 disease C0393814 GeneticVariation 0.01 disgenet
Tomaculous neuropathy S100A10 disease C0393814 Biomarker 0.01 disgenet
click here to return to the previous page