Disease Term Disease ID Gene Symbol Classification References Source
Tonic - clonic seizures C0494475 ALDH7A1 Causal Pathogenic evidence from ClinVar - ClinVar
ALG13 Causal Pathogenic evidence from ClinVar - ClinVar
FGF12 Causal Pathogenic evidence from ClinVar 27872899 ClinVar
GABRG2 Causal Pathogenic evidence from ClinVar - ClinVar
GPHN Causal Pathogenic evidence from ClinVar - ClinVar
KCNA2 Causal Pathogenic evidence from ClinVar 25751627 ClinVar
KCNQ2 Causal Pathogenic evidence from ClinVar 27602407 ClinVar
KCNQ3 Causal Pathogenic evidence from ClinVar - ClinVar
MECP2 Causal Pathogenic evidence from ClinVar 19921286 ClinVar
PCDH19 Causal Pathogenic evidence from ClinVar - ClinVar
PNKP Causal Pathogenic evidence from ClinVar 20118933 ClinVar
POLG Causal Pathogenic evidence from ClinVar 20138553, 20446108 ClinVar
SCN1A Causal Pathogenic evidence from ClinVar - ClinVar
Complex partial seizures C0149958 GABRG2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNA2 Causal Pathogenic evidence from ClinVar 25751627 ClinVar
KCNQ2 Causal Pathogenic evidence from ClinVar 27602407 ClinVar
LGI1 Causal Pathogenic evidence from ClinVar - ClinVar
MECP2 Causal Pathogenic evidence from ClinVar 19921286 ClinVar
PCDH19 Causal Pathogenic evidence from ClinVar - ClinVar
PNKP Causal Pathogenic evidence from ClinVar 20118933 ClinVar
POLG Causal Pathogenic evidence from ClinVar 20138553, 20446108 ClinVar
SCN1A Causal Pathogenic evidence from ClinVar - ClinVar
Seizure, Febrile, Complex C0751057 GABRG2 Causal Pathogenic evidence from ClinVar 25362483 ClinVar
PCDH19 Causal Pathogenic evidence from ClinVar - ClinVar
SCN1A Causal Pathogenic evidence from ClinVar 21480876, 25344690, 25362483 ClinVar
Seizure, Febrile, Simple C0149886 GABRG2 Causal Pathogenic evidence from ClinVar 25362483 ClinVar
SCN1A Causal Pathogenic evidence from ClinVar 21480876, 25344690, 25362483 ClinVar
Generalized seizures C0234533 KCNA2 Causal Pathogenic evidence from ClinVar 25751627 ClinVar
KCNQ2 Causal Pathogenic evidence from ClinVar 27602407 ClinVar
MECP2 Causal Pathogenic evidence from ClinVar 19921286 ClinVar
PCDH19 Causal Pathogenic evidence from ClinVar - ClinVar
PNKP Causal Pathogenic evidence from ClinVar 20118933 ClinVar
POLG Causal Pathogenic evidence from ClinVar 20138553, 20446108 ClinVar
PRRT2 Causal Pathogenic evidence from ClinVar - ClinVar
Single Seizure C0751110 KCNA2 Causal Pathogenic evidence from ClinVar 25751627 ClinVar
KCNQ2 Causal Pathogenic evidence from ClinVar 27602407 ClinVar
MECP2 Causal Pathogenic evidence from ClinVar 19921286 ClinVar
PNKP Causal Pathogenic evidence from ClinVar 20118933 ClinVar
POLG Causal Pathogenic evidence from ClinVar 20138553, 20446108 ClinVar
Visual seizure C0270824 KCNA2 Causal Pathogenic evidence from ClinVar 25751627 ClinVar
KCNQ2 Causal Pathogenic evidence from ClinVar 27602407 ClinVar
MECP2 Causal Pathogenic evidence from ClinVar 19921286 ClinVar
PNKP Causal Pathogenic evidence from ClinVar 20118933 ClinVar
POLG Causal Pathogenic evidence from ClinVar 20138553, 20446108 ClinVar
Benign familial neonatal-infantile seizures 140927 KCNQ2 Causal Pathogenic evidence from ClinVar - ClinVar
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 C1843140 KCNQ2 Causal Pathogenic evidence from ClinVar 19380078, 26910900 ClinVar
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 C3149074 KCNQ2 Causal Pathogenic evidence from ClinVar 9425895, 9430594, 9872318, 10323247, 10482260, 10774989, 11175290, 11572947, 11690625, 11784811, 12742592, 12754513, 12847176, 14534157, 14669214, 14985406, 15030501, 15178210, 15249611, 15596769, 16260777, 16319223, 16686649, 16691402, 16916607, 16966552, 17129708, 17475800, 17993630, 18006581, 18246739, 19344764, 19559753, 19818940, 20119593, 21913284, 21937445, 22169383, 22275249, 23290024, 23360469, 23621294, 23708187, 24318194, 24375629, 25046240, 25959266, 25960349, 25982755, 26993267 ClinVar
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 C4310728 KCNQ3 Causal Pathogenic evidence from ClinVar - ClinVar
Uncinate Seizures C0751113 KCNT1 Causal Pathogenic evidence from ClinVar 23086397 ClinVar
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 C1853995 PRRT2 Causal Pathogenic evidence from ClinVar 22101681, 22120146, 22131361, 22209761, 22243967, 22399141, 22623405, 22744660, 26598493 ClinVar