Epilepsy

Disease Term Disease ID Gene Symbol Classification References Source
Epilepsy, Cryptogenic C0086237 SCN2A Causal Pathogenic evidence from ClinVar 16464983, 23708187, 29942082 ClinVar
SCN8A Causal Pathogenic evidence from ClinVar 23708187, 29942082 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 29942082 ClinVar
SYNGAP1 Causal Pathogenic evidence from ClinVar 23708187, 29942082 ClinVar
ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8001500, 19570321 -
ADRA2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17341653 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20064661 -
ALB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15356194, 17121744 -
ALG13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
Epilepsy, Rolandic C0376532 SCN2A Causal Pathogenic evidence from ClinVar 29358611 ClinVar
SLC2A1 Causal Pathogenic evidence from ClinVar 29358611 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 29358611 ClinVar
Epilepsies, Partial C0014547 SCN3A Causal Pathogenic evidence from ClinVar 24157691 ClinVar
SCN8A Causal Pathogenic evidence from ClinVar - ClinVar
ADCY9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20522523 -
Epilepsy, Complex Partial C0085417 SCN3A Causal Pathogenic evidence from ClinVar 18242854 ClinVar
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 C4693694 SCN3A Causal Pathogenic evidence from ClinVar 24157691, 28235671 ClinVar
Epilepsy, Symptomatic, Partial Complex C0751641 SCN3A Causal Pathogenic evidence from ClinVar 18242854 ClinVar
Awakening Epilepsy C0751111 SCN8A Causal Pathogenic evidence from ClinVar 23708187, 29942082 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 29942082 ClinVar
SYNGAP1 Causal Pathogenic evidence from ClinVar 23708187, 29942082 ClinVar
ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8001500, 19570321 -
ADRA2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17341653 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20064661 -
ALB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15356194, 17121744 -
ALG13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
Benign familial infantile epilepsy 306 SCN8A Causal Pathogenic evidence from ClinVar - ClinVar
Epilepsy C0014544 SCN8A Causal Pathogenic evidence from ClinVar 23708187, 26677014, 29942082 ClinVar
SETD1A Causal Pathogenic evidence from ClinVar 31197650 ClinVar
SLC2A1 Causal Pathogenic evidence from ClinVar - ClinVar
SLC35A2 Causal Pathogenic evidence from ClinVar 30746764 ClinVar
SLC6A1 Causal Pathogenic evidence from ClinVar 29942082 ClinVar
SYNGAP1 Causal Pathogenic evidence from ClinVar 23708187, 29942082 ClinVar
ABCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8001500, 19570321 -
ACTG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8941379 -
ADRA2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17341653 -
AGMO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27000257, 31555905 -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20064661 -
ALB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15356194, 17121744 -
ALG13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
AMPD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
ARFGEF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29942082 -
EPILEPSY, CHILDHOOD ABSENCE, 1 C1838604 SLC2A1 Causal Pathogenic evidence from ClinVar 19798636, 23280796 ClinVar
Idiopathic generalized epilepsy C0270850 SLC2A1 Causal Pathogenic evidence from ClinVar 18577546, 27725288 ClinVar