Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epileptic Syndromes SCN1A disease C4505072 GeneticVariation 0.1 disgenet
Epileptic Syndromes SCN1A disease C4505072 Biomarker 0.1 disgenet
Epileptic Syndromes SCN2A disease C4505072 GeneticVariation 0.09 disgenet
Epileptic Syndromes SCN2A disease C4505072 Biomarker 0.09 disgenet
Epileptic Syndromes GABRG2 disease C4505072 GeneticVariation 0.07 disgenet
Epileptic Syndromes GABRG2 disease C4505072 Biomarker 0.07 disgenet
Epileptic Syndromes PCDH19 disease C4505072 Biomarker 0.05 disgenet
Epileptic Syndromes PCDH19 disease C4505072 GeneticVariation 0.05 disgenet
Epileptic Syndromes LGI1 disease C4505072 Biomarker 0.04 disgenet
Epileptic Syndromes GRIN2A disease C4505072 GeneticVariation 0.04 disgenet
Epileptic Syndromes LGI1 disease C4505072 PosttranslationalModification 0.04 disgenet
Epileptic Syndromes GRIN2A disease C4505072 Biomarker 0.04 disgenet
Epileptic Syndromes LGI1 disease C4505072 GeneticVariation 0.04 disgenet
Epileptic Syndromes SCN8A disease C4505072 Biomarker 0.03 disgenet
Epileptic Syndromes SCN8A disease C4505072 GeneticVariation 0.03 disgenet
Epileptic Syndromes BFIS1 disease C4505072 GeneticVariation 0.03 disgenet
Epileptic Syndromes STXBP1 disease C4505072 GeneticVariation 0.03 disgenet
Epileptic Syndromes TBC1D24 disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes ECT disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes STX1B disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes TBC1D24 disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes CHRNA4 disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes CNTNAP2 disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes SCN1B disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes GABRA1 disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes STX1B disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes GABRA1 disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes KCNQ2 disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes SCN1B disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes GABRB3 disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes POLG disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes CNTNAP2 disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes GABRB3 disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes CHRNA4 disease C4505072 GeneticVariation 0.02 disgenet
Epileptic Syndromes GABRD disease C4505072 Biomarker 0.02 disgenet
Epileptic Syndromes PLCB1 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes CDK9 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes ADAM22 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes SCN3A disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes ABCB1 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes BDNF disease C4505072 AlteredExpression 0.01 disgenet
Epileptic Syndromes C1orf52 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes MMP9 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes SLC12A5 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes KCNQ3 disease C4505072 AlteredExpression 0.01 disgenet
Epileptic Syndromes EJM2 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes PRNP disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes PART1 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes MVP disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes EFHC1 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes CISH disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes PSEN1 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes CACNA1H disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes FCMTE1 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes AQP4 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes SLC2A1 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes LRRC4 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes MAP6 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes PRRT2 disease C4505072 GeneticVariation 0.01 disgenet
Epileptic Syndromes F5 disease C4505072 Biomarker 0.01 disgenet
Epileptic Syndromes STRADA disease C4505072 GeneticVariation 0.01 disgenet
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