Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epileptic Encephalopathy, Early Infantile, 1 ARX disease C3463992 Biomarker 0.7 orphanet , disgenet
Epileptic Encephalopathy, Early Infantile, 1 ARX disease C3463992 CausalMutation 0.7 orphanet , disgenet
Epileptic Encephalopathy, Early Infantile, 1 ARX disease C3463992 GeneticVariation 0.7 orphanet , disgenet
Epileptic Encephalopathy, Early Infantile, 1 GNAO1 disease C3463992 GeneticVariation 0.4 disgenet
Epileptic Encephalopathy, Early Infantile, 1 GNAO1 disease C3463992 Biomarker 0.4 disgenet
Epileptic Encephalopathy, Early Infantile, 1 SCN1A disease C3463992 Biomarker 0.3 disgenet
Epileptic Encephalopathy, Early Infantile, 1 SIK1 disease C3463992 Biomarker 0.3 disgenet
Epileptic Encephalopathy, Early Infantile, 1 HCN1 disease C3463992 Biomarker 0.3 disgenet
Epileptic Encephalopathy, Early Infantile, 1 DNM1 disease C3463992 Biomarker 0.3 disgenet
Epileptic Encephalopathy, Early Infantile, 1 WWOX disease C3463992 GeneticVariation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 TBC1D24 disease C3463992 CausalMutation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 SYNJ1 disease C3463992 GeneticVariation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 TPTEP2-CSNK1E disease C3463992 CausalMutation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 CSNK1E disease C3463992 CausalMutation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 KCNQ2 disease C3463992 CausalMutation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 WWOX disease C3463992 CausalMutation 0.1 disgenet
Epileptic Encephalopathy, Early Infantile, 1 TBC1D24 disease C3463992 GeneticVariation 0.1 disgenet
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