Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 CLCNKB Causal Disgenet
DEPDC5 Causal ClinVar Disgenet GWAS catalog HPO
NPRL3 Causal Disgenet
NPRL2 Unknown Disgenet
SCN3A Unknown Disgenet
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 NPR2 Causal Disgenet
NPRL2 Causal ClinVar Disgenet GenCC HPO
CLCN2 Unknown Disgenet
SPAG8 Unknown Disgenet
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 NPRL3 Causal ClinVar Disgenet GWAS catalog HPO
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 SCN3A Causal CTD ClinVar Disgenet HPO