Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epilepsies, Rolandic GRIN2A disease C0376532 GermlineCausalMutation 0.53 orphanet , disgenet
Epilepsies, Rolandic GRIN2A disease C0376532 GeneticVariation 0.53 orphanet , disgenet
Epilepsies, Rolandic GRIN2A disease C0376532 Biomarker 0.53 orphanet , disgenet
Epilepsies, Rolandic SRPX2 disease C0376532 Biomarker 0.32 orphanet , disgenet
Epilepsies, Rolandic SRPX2 disease C0376532 GeneticVariation 0.32 orphanet , disgenet
Epilepsies, Rolandic GABRG2 disease C0376532 GeneticVariation 0.31 orphanet , disgenet
Epilepsies, Rolandic GABRG2 disease C0376532 GermlineCausalMutation 0.31 orphanet , disgenet
Epilepsies, Rolandic KCNQ3 disease C0376532 GeneticVariation 0.12 disgenet
Epilepsies, Rolandic KCNQ3 disease C0376532 CausalMutation 0.12 disgenet
Epilepsies, Rolandic RBFOX3 disease C0376532 CausalMutation 0.11 disgenet
Epilepsies, Rolandic SCN9A disease C0376532 CausalMutation 0.11 disgenet
Epilepsies, Rolandic SCN1A disease C0376532 CausalMutation 0.11 disgenet
Epilepsies, Rolandic SCN9A disease C0376532 GeneticVariation 0.11 disgenet
Epilepsies, Rolandic RBFOX1 disease C0376532 CausalMutation 0.11 disgenet
Epilepsies, Rolandic RBFOX1 disease C0376532 GeneticVariation 0.11 disgenet
Epilepsies, Rolandic RBFOX3 disease C0376532 GeneticVariation 0.11 disgenet
Epilepsies, Rolandic SCN1A disease C0376532 GeneticVariation 0.11 disgenet
Epilepsies, Rolandic SCARB2 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic CNTNAP2 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SLC6A1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic IER3IP1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SPTAN1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic RELN disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic PRICKLE2 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic TBC1D24 disease C0376532 CausalMutation 0.1 orphanet , disgenet
Epilepsies, Rolandic DEPDC5 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SLC2A1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic EPM2A disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic ASAH1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic KCNT1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SCN1A-AS1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic CPA6 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic CSTB disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SCN2A disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic PLCB1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SNIP1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SIK1B disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic PCDH19 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic STRADA disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SCN1B disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic SZT2 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic CHD2 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic GRIN1 disease C0376532 CausalMutation 0.1 disgenet
Epilepsies, Rolandic ELP4 disease C0376532 GeneticVariation 0.04 disgenet
Epilepsies, Rolandic ELP4 disease C0376532 Biomarker 0.04 disgenet
Epilepsies, Rolandic KCNQ2 disease C0376532 GeneticVariation 0.02 disgenet
Epilepsies, Rolandic RBFOX2 disease C0376532 GeneticVariation 0.01 disgenet
Epilepsies, Rolandic SEMA3C disease C0376532 GeneticVariation 0.01 disgenet
Epilepsies, Rolandic DISC1 disease C0376532 Biomarker 0.01 disgenet
Epilepsies, Rolandic MDGA2 disease C0376532 Biomarker 0.01 disgenet
Epilepsies, Rolandic SHANK3 disease C0376532 Biomarker 0.01 disgenet
Epilepsies, Rolandic ECT disease C0376532 Biomarker 0.01 disgenet
Epilepsies, Rolandic FMR1 disease C0376532 GeneticVariation 0.01 disgenet
Epilepsies, Rolandic ELP1 disease C0376532 GeneticVariation 0.01 disgenet
Epilepsies, Rolandic ATP1A2 disease C0376532 Biomarker 0.01 disgenet
Epilepsies, Rolandic SLC12A6 disease C0376532 GeneticVariation 0.01 disgenet
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