Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Romano Ward Syndrome KCNQ1 disease C0035828 Biomarker 0.5 orphanet , disgenet
Romano Ward Syndrome KCNQ1 disease C0035828 GeneticVariation 0.5 orphanet , disgenet
Romano Ward Syndrome KCNQ1 disease C0035828 CausalMutation 0.5 orphanet , disgenet
Romano Ward Syndrome KCNQ1 disease C0035828 GermlineCausalMutation 0.5 orphanet , disgenet
Romano Ward Syndrome SCN5A disease C0035828 GeneticVariation 0.41 orphanet , disgenet
Romano Ward Syndrome SCN5A disease C0035828 CausalMutation 0.41 orphanet , disgenet
Romano Ward Syndrome SCN5A disease C0035828 GermlineCausalMutation 0.41 orphanet , disgenet
Romano Ward Syndrome CALM2 disease C0035828 GermlineCausalMutation 0.4 orphanet , disgenet
Romano Ward Syndrome CALM2 disease C0035828 GeneticVariation 0.4 orphanet , disgenet
Romano Ward Syndrome KCNE1 disease C0035828 GeneticVariation 0.35 orphanet , disgenet
Romano Ward Syndrome KCNE1 disease C0035828 Biomarker 0.35 orphanet , disgenet
Romano Ward Syndrome KCNE1 disease C0035828 GermlineCausalMutation 0.35 orphanet , disgenet
Romano Ward Syndrome KCNH2 disease C0035828 GeneticVariation 0.32 orphanet , disgenet
Romano Ward Syndrome KCNH2 disease C0035828 GermlineCausalMutation 0.32 orphanet , disgenet
Romano Ward Syndrome KCNE2 disease C0035828 GermlineCausalMutation 0.31 orphanet , disgenet
Romano Ward Syndrome KCNE2 disease C0035828 GeneticVariation 0.31 orphanet , disgenet
Romano Ward Syndrome TRDN disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome CALM1 disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome CAV3 disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome SNTA1 disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome AKAP9 disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome ANK2 disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome NOS1AP disease C0035828 GermlineModifyingMutation 0.3 orphanet , disgenet
Romano Ward Syndrome SCN4B disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome KCNJ5 disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome SCN10A disease C0035828 GermlineCausalMutation 0.3 orphanet , disgenet
Romano Ward Syndrome CALM3 disease C0035828 GeneticVariation 0.1 orphanet , disgenet
Romano Ward Syndrome CALM3 disease C0035828 CausalMutation 0.1 orphanet , disgenet
Romano Ward Syndrome PKP2 disease C0035828 GeneticVariation 0.1 disgenet
Romano Ward Syndrome RWS disease C0035828 GeneticVariation 0.02 disgenet
Romano Ward Syndrome RWS disease C0035828 Biomarker 0.02 disgenet
Romano Ward Syndrome KCNA5 disease C0035828 GeneticVariation 0.01 disgenet
Romano Ward Syndrome KCNK3 disease C0035828 GeneticVariation 0.01 disgenet
Romano Ward Syndrome KCNA4 disease C0035828 GeneticVariation 0.01 disgenet
Romano Ward Syndrome CACNA1C NA C0035828 NA NA orphanet
Romano Ward Syndrome TBX5 NA C0035828 NA NA orphanet
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