Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Freeman-Sheldon syndrome MYH3 disease C0265224 GermlineCausalMutation 0.8 orphanet , disgenet
Freeman-Sheldon syndrome MYH3 disease C0265224 GeneticVariation 0.8 orphanet , disgenet
Freeman-Sheldon syndrome MYH3 disease C0265224 Biomarker 0.8 orphanet , disgenet
Freeman-Sheldon syndrome MYH3 disease C0265224 CausalMutation 0.8 orphanet , disgenet
Freeman-Sheldon syndrome NALCN disease C0265224 GermlineCausalMutation 0.3 orphanet , disgenet
Freeman-Sheldon syndrome TNNI2 disease C0265224 GeneticVariation 0.24 disgenet
Freeman-Sheldon syndrome TNNI2 disease C0265224 Biomarker 0.24 disgenet
Freeman-Sheldon syndrome RAB18 disease C0265224 Biomarker 0.2 disgenet
Freeman-Sheldon syndrome FBN2 disease C0265224 Biomarker 0.2 disgenet
Freeman-Sheldon syndrome TBC1D20 disease C0265224 Biomarker 0.2 disgenet
Freeman-Sheldon syndrome ECEL1 disease C0265224 Biomarker 0.2 disgenet
Freeman-Sheldon syndrome TPM2 disease C0265224 Biomarker 0.04 disgenet
Freeman-Sheldon syndrome TPM2 disease C0265224 GeneticVariation 0.04 disgenet
Freeman-Sheldon syndrome TNNT3 disease C0265224 Biomarker 0.02 disgenet
Freeman-Sheldon syndrome GHRH disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome BTF3P11 disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome CYP2B6 disease C0265224 AlteredExpression 0.01 disgenet
Freeman-Sheldon syndrome CXCL12 disease C0265224 AlteredExpression 0.01 disgenet
Freeman-Sheldon syndrome ZC4H2 disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome TNFRSF11B disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome DHODH disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome MYBPC1 disease C0265224 GeneticVariation 0.01 disgenet
Freeman-Sheldon syndrome MOCOS disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome TNFSF11 disease C0265224 AlteredExpression 0.01 disgenet
Freeman-Sheldon syndrome H19 disease C0265224 GeneticVariation 0.01 disgenet
Freeman-Sheldon syndrome TGFB1 disease C0265224 AlteredExpression 0.01 disgenet
Freeman-Sheldon syndrome ACTB disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome CXADR disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome CNTN3 disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome SMCP disease C0265224 Biomarker 0.01 disgenet
Freeman-Sheldon syndrome IGF1 disease C0265224 AlteredExpression 0.01 disgenet
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