Disease Term Disease ID Gene Symbol Classification References Source
Autosomal dominant nocturnal frontal lobe epilepsy 98784 CHRNA2 Causal Pathogenic evidence from ClinVar - ClinVar
CHRNA4 Causal Pathogenic evidence from ClinVar - ClinVar
CHRNB2 Causal Pathogenic evidence from ClinVar - ClinVar
DEPDC5 Causal Pathogenic evidence from ClinVar - ClinVar
KCNT1 Causal Pathogenic evidence from ClinVar - ClinVar
CABP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy C3696898 CHRNA2 Causal Pathogenic evidence from ClinVar 16826524 ClinVar
CHRNA4 Causal Pathogenic evidence from ClinVar 7550350, 10563623, 10939581, 12887446, 19237585, 22118295 ClinVar
CHRNB2 Causal Pathogenic evidence from ClinVar 11062464 ClinVar
DEPDC5 Causal Pathogenic evidence from ClinVar 23542697, 23542701 ClinVar
KCNT1 Causal Pathogenic evidence from ClinVar 23086396 ClinVar
CABP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29108277 -
CRH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16222669 -
Nocturnal epilepsy C0393719 GLRA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GPHN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -