Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Waardenburg Syndrome, Type 2E SOX10 disease C2700405 CausalMutation 0.7 disgenet
Waardenburg Syndrome, Type 2E SOX10 disease C2700405 Biomarker 0.7 disgenet
Waardenburg Syndrome, Type 2E SOX10 disease C2700405 GeneticVariation 0.7 disgenet
Waardenburg Syndrome, Type 2E MITF disease C2700405 Biomarker 0.3 disgenet
Waardenburg Syndrome, Type 2E POLR2F disease C2700405 CausalMutation 0.1 disgenet
Waardenburg Syndrome, Type 2E POLR2F disease C2700405 GeneticVariation 0.1 disgenet
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