Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Smith-Magenis Syndrome RAI1 disease C0795864 ChromosomalRearrangement 1 orphanet , disgenet
Smith-Magenis Syndrome RAI1 disease C0795864 AlteredExpression 1 orphanet , disgenet
Smith-Magenis Syndrome RAI1 disease C0795864 Biomarker 1 orphanet , disgenet
Smith-Magenis Syndrome RAI1 disease C0795864 CausalMutation 1 orphanet , disgenet
Smith-Magenis Syndrome RAI1 disease C0795864 GeneticVariation 1 orphanet , disgenet
Smith-Magenis Syndrome IQSEC2 disease C0795864 GeneticVariation 0.3 orphanet , disgenet
Smith-Magenis Syndrome FLII disease C0795864 GeneticVariation 0.3 orphanet , disgenet
Smith-Magenis Syndrome DEAF1 disease C0795864 GeneticVariation 0.3 orphanet , disgenet
Smith-Magenis Syndrome SMS disease C0795864 Biomarker 0.13 disgenet
Smith-Magenis Syndrome SMS disease C0795864 GeneticVariation 0.13 disgenet
Smith-Magenis Syndrome PMP22 disease C0795864 GeneticVariation 0.04 disgenet
Smith-Magenis Syndrome PMP22 disease C0795864 Biomarker 0.04 disgenet
Smith-Magenis Syndrome RARA disease C0795864 Biomarker 0.03 disgenet
Smith-Magenis Syndrome CLOCK disease C0795864 GeneticVariation 0.03 disgenet
Smith-Magenis Syndrome RNF112 disease C0795864 Biomarker 0.03 disgenet
Smith-Magenis Syndrome RARA disease C0795864 GeneticVariation 0.03 disgenet
Smith-Magenis Syndrome IFIH1 disease C0795864 Biomarker 0.03 disgenet
Smith-Magenis Syndrome TCF20 disease C0795864 Biomarker 0.03 disgenet
Smith-Magenis Syndrome IFIH1 disease C0795864 GeneticVariation 0.03 disgenet
Smith-Magenis Syndrome TP53 disease C0795864 GeneticVariation 0.03 disgenet
Smith-Magenis Syndrome TP53 disease C0795864 Biomarker 0.03 disgenet
Smith-Magenis Syndrome TCF20 disease C0795864 GeneticVariation 0.03 disgenet
Smith-Magenis Syndrome SREBF1 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome PACC1 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome ERBB2 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome GAD2 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome RASD1 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome LLGL1 disease C0795864 GeneticVariation 0.02 disgenet
Smith-Magenis Syndrome LLGL1 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome GH1 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome REM1 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome TNFRSF13B disease C0795864 GeneticVariation 0.02 disgenet
Smith-Magenis Syndrome HTC2 disease C0795864 Biomarker 0.02 disgenet
Smith-Magenis Syndrome MYO15A disease C0795864 GeneticVariation 0.02 disgenet
Smith-Magenis Syndrome ENDOU disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome STS disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome FMR1 disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome MMP13 disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome PRPF31 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome MBD5 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome MFAP4 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome RNH1 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome EXOSC6 disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome S100A10 disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome PPP1R13L disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome PTLS disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome NUDT10 disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome FLCN disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome HDAC4 disease C0795864 AlteredExpression 0.01 disgenet
Smith-Magenis Syndrome DDX58 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome NT5M disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome SHC3 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome PLAAT4 disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome WWOX disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome COPS3 disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome GRIN2B disease C0795864 GeneticVariation 0.01 disgenet
Smith-Magenis Syndrome INS disease C0795864 Biomarker 0.01 disgenet
Smith-Magenis Syndrome GDF1 disease C0795864 GeneticVariation 0.01 disgenet
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