Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epileptic Encephalopathy, Early Infantile, 2 CDKL5 disease C1839333 GeneticVariation 0.7 disgenet
Epileptic Encephalopathy, Early Infantile, 2 CDKL5 disease C1839333 Biomarker 0.7 disgenet
Epileptic Encephalopathy, Early Infantile, 2 CDKL5 disease C1839333 GermlineCausalMutation 0.7 disgenet
Epileptic Encephalopathy, Early Infantile, 2 PCDH19 disease C1839333 Biomarker 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 PCDH19 disease C1839333 GeneticVariation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN1B disease C1839333 GeneticVariation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRG2 disease C1839333 GeneticVariation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN1A disease C1839333 GeneticVariation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRG2 disease C1839333 Biomarker 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN1B disease C1839333 Biomarker 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN1A disease C1839333 Biomarker 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN1A disease C1839333 AlteredExpression 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN2A disease C1839333 Biomarker 0.09 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN2A disease C1839333 GeneticVariation 0.09 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN9A disease C1839333 Biomarker 0.07 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN9A disease C1839333 GeneticVariation 0.07 disgenet
Epileptic Encephalopathy, Early Infantile, 2 STXBP1 disease C1839333 Biomarker 0.03 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRA1 disease C1839333 GeneticVariation 0.03 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRA1 disease C1839333 Biomarker 0.03 disgenet
Epileptic Encephalopathy, Early Infantile, 2 PVALB disease C1839333 Biomarker 0.03 disgenet
Epileptic Encephalopathy, Early Infantile, 2 STXBP1 disease C1839333 GeneticVariation 0.03 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SST disease C1839333 Biomarker 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRB3 disease C1839333 Biomarker 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SST disease C1839333 GeneticVariation 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 KCNQ2 disease C1839333 Biomarker 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN8A disease C1839333 GeneticVariation 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN2B disease C1839333 GeneticVariation 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN2B disease C1839333 Biomarker 0.02 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GPR55 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 POLG disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 MTOR disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 TLR1 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 HDAC4 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 CACNA1A disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GPHN disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRA2 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 LINC01672 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 ALDH7A1 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 OPN1MW3 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 LOH19CR1 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SLC12A5 disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 MECP2 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 ACHE disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 VIP disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 TSPYL4 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 EPHA5 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 OPN1MW2 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 RPS19 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 NFE2L2 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABPA disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 ADRA1D disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SCN7A disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 OPN1MW disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 FOXM1 disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SLC12A2 disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 IGF1 disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 PRRT2 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 CHD2 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 CYP2C19 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 E2F1 disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 KCNQ3 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GABRD disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 ARX disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 B3GNT2 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 CACNA1G disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 SLC2A1 disease C1839333 Biomarker 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 B3GNTL1 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 EJM2 disease C1839333 GeneticVariation 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 GAPDH disease C1839333 AlteredExpression 0.01 disgenet
Epileptic Encephalopathy, Early Infantile, 2 FOXG1 disease C1839333 Biomarker 0.01 disgenet
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