Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epilepsies, Generalized SCN1A disease C0014548 GeneticVariation 0.5 disgenet
Epilepsies, Generalized SCN1A disease C0014548 Biomarker 0.5 disgenet
Epilepsies, Generalized CACNA1H disease C0014548 Biomarker 0.36 disgenet
Epilepsies, Generalized CACNA1H disease C0014548 GeneticVariation 0.36 disgenet
Epilepsies, Generalized CHRNA7 disease C0014548 Biomarker 0.32 disgenet
Epilepsies, Generalized CHRNA7 disease C0014548 GeneticVariation 0.32 disgenet
Epilepsies, Generalized CLPB disease C0014548 Biomarker 0.3 disgenet
Epilepsies, Generalized JRK disease C0014548 Biomarker 0.3 disgenet
Epilepsies, Generalized CACNB4 disease C0014548 Biomarker 0.3 disgenet
Epilepsies, Generalized GABRA1 disease C0014548 Biomarker 0.24 disgenet
Epilepsies, Generalized GABRA1 disease C0014548 GeneticVariation 0.24 disgenet
Epilepsies, Generalized CACNA2D2 disease C0014548 Biomarker 0.2 disgenet
Epilepsies, Generalized DNM1 disease C0014548 Biomarker 0.2 disgenet
Epilepsies, Generalized GABRG2 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized KLHL29 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized SCN1A-AS1 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized ASAH1 disease C0014548 CausalMutation 0.1 disgenet
Epilepsies, Generalized PTPRK disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized DDHD2 disease C0014548 CausalMutation 0.1 disgenet
Epilepsies, Generalized GABRG2 disease C0014548 Biomarker 0.1 disgenet
Epilepsies, Generalized GLDC disease C0014548 CausalMutation 0.1 disgenet
Epilepsies, Generalized GABRA2 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized POLG disease C0014548 CausalMutation 0.1 disgenet
Epilepsies, Generalized CDK5RAP3 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized MMP8 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized PCDH7 disease C0014548 GeneticVariation 0.1 disgenet
Epilepsies, Generalized SCN1B disease C0014548 GeneticVariation 0.09 disgenet
Epilepsies, Generalized SCN1B disease C0014548 Biomarker 0.09 disgenet
Epilepsies, Generalized SLC2A1 disease C0014548 Biomarker 0.08 disgenet
Epilepsies, Generalized SLC2A1 disease C0014548 GeneticVariation 0.08 disgenet
Epilepsies, Generalized CLCN2 disease C0014548 GeneticVariation 0.05 disgenet
Epilepsies, Generalized CLCN2 disease C0014548 Biomarker 0.05 disgenet
Epilepsies, Generalized CHRNA4 disease C0014548 GeneticVariation 0.04 disgenet
Epilepsies, Generalized HCN1 disease C0014548 GeneticVariation 0.04 disgenet
Epilepsies, Generalized HCN1 disease C0014548 Biomarker 0.04 disgenet
Epilepsies, Generalized CHRNA4 disease C0014548 Biomarker 0.04 disgenet
Epilepsies, Generalized CHD2 disease C0014548 GeneticVariation 0.03 disgenet
Epilepsies, Generalized CHD2 disease C0014548 Biomarker 0.03 disgenet
Epilepsies, Generalized CACNA1A disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized SV2A disease C0014548 Biomarker 0.02 disgenet
Epilepsies, Generalized SLC6A1 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized TXNRD1 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized SCN2A disease C0014548 Biomarker 0.02 disgenet
Epilepsies, Generalized HP disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized KCNJ10 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized SV2A disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized KCNMA1 disease C0014548 GeneticVariation 0.02 orphanet , disgenet
Epilepsies, Generalized SYNGAP1 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized SLC6A1 disease C0014548 Biomarker 0.02 disgenet
Epilepsies, Generalized HCN2 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized KCNQ2 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized SYNGAP1 disease C0014548 Biomarker 0.02 disgenet
Epilepsies, Generalized LGI1 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized SCN2A disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized LGI1 disease C0014548 Biomarker 0.02 disgenet
Epilepsies, Generalized ME2 disease C0014548 GeneticVariation 0.02 disgenet
Epilepsies, Generalized CDKL5 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized SEC14L2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized SOX1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized CACNA1G disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized ATP1A2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized ATP6V1B2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized ALDH5A1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized KCNQ3 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized OR10A4 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized ARHGEF7 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized GRM4 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized LGALS14 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized CMA1 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized NBEA disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized NEDD4L disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized CRK disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized RBFOX1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized TYMS disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized MCAT disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized HMGB1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized SLC2A3 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized GMPPB disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized IL1B disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized RORB disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized CUX2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized KCNJ11 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized SLC20A2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized SLC16A1 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized GAD2 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized GRIK2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized GABRB3 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized OPRM1 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized ABCB1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized GLRB disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized TAP1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized UBE3A disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized ATP1A3 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized GABRD disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized MCTS1 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized CACNA1I disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized KCNMB3 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized MAST4 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized NPY disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized CHRNB2 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized KCNT1 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized GRIN2A disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized PYCARD disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized ZNF44 disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized GLRA3 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized CPA6 disease C0014548 GeneticVariation 0.01 disgenet
Epilepsies, Generalized CHRFAM7A disease C0014548 Biomarker 0.01 disgenet
Epilepsies, Generalized MIR155 disease C0014548 AlteredExpression 0.01 disgenet
Epilepsies, Generalized ABCC2 disease C0014548 GeneticVariation 0.01 disgenet
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