Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Waardenburg syndrome, type 4 EDNRB disease C1848519 Biomarker 1 orphanet , disgenet
Waardenburg syndrome, type 4 EDNRB disease C1848519 GermlineCausalMutation 1 orphanet , disgenet
Waardenburg syndrome, type 4 EDNRB disease C1848519 CausalMutation 1 orphanet , disgenet
Waardenburg syndrome, type 4 EDNRB disease C1848519 GeneticVariation 1 orphanet , disgenet
Waardenburg syndrome, type 4 EDN3 disease C1848519 GeneticVariation 0.56 orphanet , disgenet
Waardenburg syndrome, type 4 EDN3 disease C1848519 GermlineCausalMutation 0.56 orphanet , disgenet
Waardenburg syndrome, type 4 EDN3 disease C1848519 Biomarker 0.56 orphanet , disgenet
Waardenburg syndrome, type 4 SOX10 disease C1848519 GeneticVariation 0.5 orphanet , disgenet
Waardenburg syndrome, type 4 SOX10 disease C1848519 GermlineCausalMutation 0.5 orphanet , disgenet
Waardenburg syndrome, type 4 SOX10 disease C1848519 CausalMutation 0.5 orphanet , disgenet
Waardenburg syndrome, type 4 SOX10 disease C1848519 Biomarker 0.5 orphanet , disgenet
Waardenburg syndrome, type 4 SOX10 disease C1848519 AlteredExpression 0.5 orphanet , disgenet
Waardenburg syndrome, type 4 MITF disease C1848519 GeneticVariation 0.31 orphanet , disgenet
Waardenburg syndrome, type 4 MITF disease C1848519 GermlineCausalMutation 0.31 orphanet , disgenet
Waardenburg syndrome, type 4 POLR2F disease C1848519 CausalMutation 0.1 disgenet
Waardenburg syndrome, type 4 SOX8 disease C1848519 Biomarker 0.01 disgenet
Waardenburg syndrome, type 4 SOX9 disease C1848519 Biomarker 0.01 disgenet
Waardenburg syndrome, type 4 ZEB2 disease C1848519 Biomarker 0.01 disgenet
Waardenburg syndrome, type 4 SRY disease C1848519 GeneticVariation 0.01 disgenet
Waardenburg syndrome, type 4 ADGRV1 disease C1848519 GeneticVariation 0.01 disgenet
Waardenburg syndrome, type 4 PAX3 disease C1848519 GeneticVariation 0.01 disgenet
Waardenburg syndrome, type 4 RET disease C1848519 Biomarker 0.01 disgenet
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