Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epilepsies, Partial KCNT1 disease C0014547 Biomarker 0.33 disgenet
Epilepsies, Partial KCNT1 disease C0014547 GeneticVariation 0.33 disgenet
Epilepsies, Partial SCN3A disease C0014547 Biomarker 0.32 disgenet
Epilepsies, Partial SCN3A disease C0014547 GeneticVariation 0.32 disgenet
Epilepsies, Partial FGFR3 disease C0014547 GeneticVariation 0.31 disgenet
Epilepsies, Partial FGFR3 disease C0014547 Biomarker 0.31 disgenet
Epilepsies, Partial MMP9 disease C0014547 Biomarker 0.2 disgenet
Epilepsies, Partial CNR1 disease C0014547 Biomarker 0.2 disgenet
Epilepsies, Partial SCN1A disease C0014547 GeneticVariation 0.17 disgenet
Epilepsies, Partial SCN2A disease C0014547 GeneticVariation 0.12 disgenet
Epilepsies, Partial SCN2A disease C0014547 Biomarker 0.12 disgenet
Epilepsies, Partial CDKL5 disease C0014547 CausalMutation 0.1 disgenet
Epilepsies, Partial SCN1A-AS1 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial SLC33A1 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial DEPDC5 disease C0014547 GeneticVariation 0.1 orphanet , disgenet
Epilepsies, Partial DEPDC5 disease C0014547 AlteredExpression 0.1 orphanet , disgenet
Epilepsies, Partial NID1 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial SNAP25-AS1 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial LGI1 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial LGI1 disease C0014547 Biomarker 0.1 disgenet
Epilepsies, Partial SPTAN1 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial SNAP25 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial SCN8A disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial DEPDC5 disease C0014547 Biomarker 0.1 orphanet , disgenet
Epilepsies, Partial MECP2 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial ADCY9 disease C0014547 GeneticVariation 0.1 disgenet
Epilepsies, Partial NPRL3 disease C0014547 Biomarker 0.06 orphanet , disgenet
Epilepsies, Partial NPRL3 disease C0014547 GeneticVariation 0.06 orphanet , disgenet
Epilepsies, Partial TBC1D24 disease C0014547 GeneticVariation 0.04 orphanet , disgenet
Epilepsies, Partial GRIN2A disease C0014547 GeneticVariation 0.04 disgenet
Epilepsies, Partial NPRL2 disease C0014547 GeneticVariation 0.04 orphanet , disgenet
Epilepsies, Partial MTOR disease C0014547 GeneticVariation 0.04 disgenet
Epilepsies, Partial NPRL2 disease C0014547 Biomarker 0.04 orphanet , disgenet
Epilepsies, Partial TSC2 disease C0014547 Biomarker 0.03 disgenet
Epilepsies, Partial CNTNAP2 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial FAM20C disease C0014547 Biomarker 0.03 disgenet
Epilepsies, Partial TSC2 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial FAM20C disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial CHRNA4 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial PRRT2 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial SLC2A1 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial TSC1 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial TSC1 disease C0014547 Biomarker 0.03 disgenet
Epilepsies, Partial ELP4 disease C0014547 Biomarker 0.03 disgenet
Epilepsies, Partial CPA6 disease C0014547 GeneticVariation 0.03 disgenet
Epilepsies, Partial CPA6 disease C0014547 PosttranslationalModification 0.03 disgenet
Epilepsies, Partial MVP disease C0014547 AlteredExpression 0.02 disgenet
Epilepsies, Partial SMUG1 disease C0014547 Biomarker 0.02 disgenet
Epilepsies, Partial MVP disease C0014547 GeneticVariation 0.02 disgenet
Epilepsies, Partial LGI2 disease C0014547 Biomarker 0.02 disgenet
Epilepsies, Partial LGI2 disease C0014547 GeneticVariation 0.02 disgenet
Epilepsies, Partial SYN1 disease C0014547 GeneticVariation 0.02 disgenet
Epilepsies, Partial BDNF disease C0014547 Biomarker 0.02 disgenet
Epilepsies, Partial BDNF disease C0014547 GeneticVariation 0.02 disgenet
Epilepsies, Partial KCNAB1 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial WDR59 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial GAD1 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial TBC1D9 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial PTPN4 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial ARHGEF9 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial SCGB1D4 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial MSE disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial NR3C1 disease C0014547 AlteredExpression 0.01 disgenet
Epilepsies, Partial TIMP4 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial RGS6 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial TRPV4 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial EJM2 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial LMNA disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial FOXG1 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial NR3C2 disease C0014547 AlteredExpression 0.01 disgenet
Epilepsies, Partial PTEN disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial RBFOX1 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial BABAM2 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial TESC disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial DAG1 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial COL4A1 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial ABCB1 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial RASA1 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial CREB1 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial ABCC2 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial CLCN6 disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial FECD3 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial AKT1 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial GRIN2B disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial SLC12A3 disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial BRAF disease C0014547 GeneticVariation 0.01 disgenet
Epilepsies, Partial GDNF disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial SCN1B disease C0014547 Biomarker 0.01 disgenet
Epilepsies, Partial CHRNB2 disease C0014547 Biomarker 0.01 disgenet
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