Generalized epilepsy with febrile seizures plus

Disease Term Disease ID Gene Symbol Classification References Source
Generalized Epilepsy with Febrile Seizures Plus C3502809 HCN1 Causal Pathogenic evidence from ClinVar 30351409 ClinVar
SCN1B Causal Pathogenic evidence from ClinVar - ClinVar
SCN9A Causal Pathogenic evidence from ClinVar - ClinVar
ADGRV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12402266 -
GABRD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GABRG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10742094, 11254444, 11254445, 11524484, 11756608, 12086636, 12576172, 14702334, 17537961, 19409490, 24257433, 25378155, 25576396, 28084635, 28842445 -
SCN2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STX1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25362483 -
Generalized Epilepsy With Febrile Seizures Plus, 7 C2751778 SCN9A Causal Pathogenic evidence from ClinVar 374104, 14985375, 17145499, 17470132, 18599537, 19304393, 19557861, 19763161, 21115638, 23149731, 23895530, 25253744 ClinVar
SCN1A-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 374104, 17145499, 17470132, 18599537, 19304393, 19557861, 21115638, 23149731, 25253744 -
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 C1858674 GABRG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11326274, 15342642, 16924025, 23708187, 28460589 -