Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Sacral Agenesis Syndrome VANGL1 phenotype C1867774 SusceptibilityMutation 0.3 disgenet
Sacral Agenesis Syndrome FUZ phenotype C1867774 GermlineCausalMutation 0.3 disgenet
Sacral Agenesis Syndrome TBXT NA C1867774 NA NA orphanet
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