Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ellis Van Creveld Syndrome EVC2 disease C0013903 GeneticVariation 1 orphanet , disgenet
Ellis Van Creveld Syndrome EVC2 disease C0013903 CausalMutation 1 orphanet , disgenet
Ellis Van Creveld Syndrome EVC2 disease C0013903 Biomarker 1 orphanet , disgenet
Ellis Van Creveld Syndrome EVC2 disease C0013903 GermlineCausalMutation 1 orphanet , disgenet
Ellis Van Creveld Syndrome EVC disease C0013903 GeneticVariation 0.96 orphanet , disgenet
Ellis Van Creveld Syndrome EVC disease C0013903 GermlineCausalMutation 0.96 orphanet , disgenet
Ellis Van Creveld Syndrome EVC disease C0013903 CausalMutation 0.96 orphanet , disgenet
Ellis Van Creveld Syndrome EVC disease C0013903 Biomarker 0.96 orphanet , disgenet
Ellis Van Creveld Syndrome GLI1 disease C0013903 GermlineCausalMutation 0.31 orphanet , disgenet
Ellis Van Creveld Syndrome DYNC2LI1 disease C0013903 GermlineCausalMutation 0.31 orphanet , disgenet
Ellis Van Creveld Syndrome GLI1 disease C0013903 AlteredExpression 0.31 orphanet , disgenet
Ellis Van Creveld Syndrome DYNC2LI1 disease C0013903 GeneticVariation 0.31 orphanet , disgenet
Ellis Van Creveld Syndrome CRMP1 disease C0013903 CausalMutation 0.1 disgenet
Ellis Van Creveld Syndrome CRMP1 disease C0013903 GeneticVariation 0.1 disgenet
Ellis Van Creveld Syndrome WDR35 disease C0013903 GeneticVariation 0.04 disgenet
Ellis Van Creveld Syndrome MSX1 disease C0013903 GeneticVariation 0.01 disgenet
Ellis Van Creveld Syndrome IFT57 disease C0013903 Biomarker 0.01 disgenet
Ellis Van Creveld Syndrome KPNA4 disease C0013903 GeneticVariation 0.01 disgenet
Ellis Van Creveld Syndrome STK32B disease C0013903 Biomarker 0.01 disgenet
Ellis Van Creveld Syndrome EFCAB7 disease C0013903 GeneticVariation 0.01 disgenet
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