Seizure

Disease Term Disease ID Gene Symbol Classification References Source
Benign familial neonatal-infantile seizures 140927 SCN2A Causal Pathogenic evidence from ClinVar - ClinVar
Complex partial seizures C0149958 SCN2A Causal Pathogenic evidence from ClinVar - ClinVar
SLC2A1 Causal Pathogenic evidence from ClinVar 9462754, 10980529, 11603379 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 11074187 ClinVar
ABAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10407778 -
ABCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16504477 -
ACAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23266720 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19941057, 27083141 -
ACSF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADCYAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29673861 -
ADGRV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Seizure, Febrile, Complex C0751057 SCN2A Causal Pathogenic evidence from ClinVar 25344690 ClinVar
Seizure, Febrile, Simple C0149886 SCN2A Causal Pathogenic evidence from ClinVar 25344690 ClinVar
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 C1843140 SCN2A Causal Pathogenic evidence from ClinVar 11371648, 12243921, 15028761, 15048894, 16417554, 17021166, 17386050, 18479388, 19786696, 20371507, 22612257, 23360469, 23758435, 23935176, 24579881, 25772804, 25982755, 26291284, 26648591, 26993267, 27781031, 27824329, 27867041, 28379373, 28554332, 29186148, 29215089, 29844171, 30144217 ClinVar
Tonic - clonic seizures C0494475 SCN2A Causal Pathogenic evidence from ClinVar - ClinVar
SCN8A Causal Pathogenic evidence from ClinVar - ClinVar
SLC2A1 Causal Pathogenic evidence from ClinVar 9462754, 10980529, 11603379 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 11074187 ClinVar
ABAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10407778 -
ABCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16504477 -
ABCC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACADM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23266720 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19941057, 27083141 -
ACSL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADCYAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29673861 -
Generalized seizures C0234533 SCN8A Causal Pathogenic evidence from ClinVar - ClinVar
SLC2A1 Causal Pathogenic evidence from ClinVar 9462754, 10980529, 11603379 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 11074187 ClinVar
ABAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10407778 -
ABCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16504477 -
ACAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23266720 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19941057, 27083141 -
ADCYAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29673861 -
ADGRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 C4310728 SCN8A Causal Pathogenic evidence from ClinVar 24874546, 26677014, 27210545 ClinVar
Single Seizure C0751110 SLC2A1 Causal Pathogenic evidence from ClinVar 9462754, 10980529, 11603379 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 11074187 ClinVar
ABAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10407778 -
ABCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16504477 -
ACAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23266720 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19941057, 27083141 -
ADCYAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29673861 -
Visual seizure C0270824 SLC2A1 Causal Pathogenic evidence from ClinVar 9462754, 10980529, 11603379 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 11074187 ClinVar
ABAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10407778 -
ABCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16504477 -
ACAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23266720 -
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19941057, 27083141 -
ADCYAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29673861 -