Epilepsy with febrile seizures plus

Disease Term Disease ID Gene Symbol Classification References Source
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 C1858673 SCN1A Causal Pathogenic evidence from ClinVar 10742094, 11254444, 11254445, 11524484, 11756608, 12535936, 12576172, 12919402, 14672992, 15087100, 15525788, 15694566, 15715999, 16326807, 16525050, 16541393, 16713920, 17347258, 17507202, 17561957, 17927801, 17928445, 18251839, 18413471, 18566737, 19332696, 19339291, 19464195, 19522081, 20117752, 20550552, 20600615, 20729507, 20831750, 21248271, 21864321, 22848613 ClinVar
SCN1A-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15087100, 16541393, 16713920, 20831750, 22848613 -
Generalized epilepsy with febrile seizures-plus 36387 SCN1A Causal Pathogenic evidence from ClinVar - ClinVar
SCN1B Causal Pathogenic evidence from ClinVar - ClinVar
STX1B Causal Pathogenic evidence from ClinVar - ClinVar
ADGRV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
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 - -
HCN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCN2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCN9A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 C1858672 SCN1B Causal Pathogenic evidence from ClinVar 9697698, 16301704, 17928445, 18464934, 21040232, 27761167 ClinVar
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 C4015395 STX1B Causal Pathogenic evidence from ClinVar 25362483 ClinVar