Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Waardenburg syndrome type 2 MITF disease C2700265 GermlineCausalMutation 0.8 orphanet , disgenet
Waardenburg syndrome type 2 MITF disease C2700265 GeneticVariation 0.8 orphanet , disgenet
Waardenburg syndrome type 2 MITF disease C2700265 Biomarker 0.8 orphanet , disgenet
Waardenburg syndrome type 2 MITF disease C2700265 AlteredExpression 0.8 orphanet , disgenet
Waardenburg syndrome type 2 SOX10 disease C2700265 GermlineCausalMutation 0.57 orphanet , disgenet
Waardenburg syndrome type 2 SOX10 disease C2700265 GeneticVariation 0.57 orphanet , disgenet
Waardenburg syndrome type 2 SOX10 disease C2700265 Biomarker 0.57 orphanet , disgenet
Waardenburg syndrome type 2 KITLG disease C2700265 GeneticVariation 0.51 orphanet , disgenet
Waardenburg syndrome type 2 KITLG disease C2700265 GermlineCausalMutation 0.51 orphanet , disgenet
Waardenburg syndrome type 2 KITLG disease C2700265 Biomarker 0.51 orphanet , disgenet
Waardenburg syndrome type 2 SNAI2 disease C2700265 GermlineCausalMutation 0.32 orphanet , disgenet
Waardenburg syndrome type 2 SNAI2 disease C2700265 GeneticVariation 0.32 orphanet , disgenet
Waardenburg syndrome type 2 EDNRB disease C2700265 GermlineCausalMutation 0.31 orphanet , disgenet
Waardenburg syndrome type 2 EDNRB disease C2700265 GeneticVariation 0.31 orphanet , disgenet
Waardenburg syndrome type 2 PAX3 disease C2700265 GeneticVariation 0.03 disgenet
Waardenburg syndrome type 2 SNAI1 disease C2700265 GeneticVariation 0.01 disgenet
Waardenburg syndrome type 2 EDN3 disease C2700265 GeneticVariation 0.01 disgenet
Waardenburg syndrome type 2 GJB2 disease C2700265 GeneticVariation 0.01 disgenet
Waardenburg syndrome type 2 TYR NA C2700265 NA NA orphanet
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