Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Townes-Brocks syndrome SALL1 disease C0265246 CausalMutation 0.9 orphanet , disgenet
Townes-Brocks syndrome SALL1 disease C0265246 GeneticVariation 0.9 orphanet , disgenet
Townes-Brocks syndrome SALL1 disease C0265246 Biomarker 0.9 orphanet , disgenet
Townes-Brocks syndrome DACT1 disease C0265246 GeneticVariation 0.51 orphanet , disgenet
Townes-Brocks syndrome DACT1 disease C0265246 GermlineCausalMutation 0.51 orphanet , disgenet
Townes-Brocks syndrome DACT1 disease C0265246 Biomarker 0.51 orphanet , disgenet
Townes-Brocks syndrome EYA1 disease C0265246 GeneticVariation 0.01 disgenet
Townes-Brocks syndrome TBX5 disease C0265246 GeneticVariation 0.01 disgenet
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