Myoclonic epilepsy

Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 C1832841 CNTN2 Causal Pathogenic evidence from ClinVar 23518707 ClinVar
ADRA2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24114805 -
CTNND2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29127138 -
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 C3809374 CNTN2 Causal Pathogenic evidence from ClinVar - ClinVar
Myoclonic Epilepsies, Progressive C0751778 CSTB Causal Pathogenic evidence from ClinVar 8596935, 9012407, 9054946, 9342192, 9360639, 10441148, 15483648, 17003839, 17920138, 23205931, 26843564 ClinVar
TBC1D24 Causal Pathogenic evidence from ClinVar 25401298 ClinVar
AFG3L2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25401298 -
ATN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CERS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLN6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25401298 -
Unverricht-Lundborg disease 308 CSTB Causal Pathogenic evidence from ClinVar - ClinVar
Unverricht-Lundborg Syndrome C0751785 CSTB Causal Pathogenic evidence from ClinVar 8596935, 9012407, 9054946, 9360639, 11814737, 15329070, 15483648, 16155205, 17003839, 18028412, 18925453, 20078424, 21757863, 22936898, 23205931, 25288807, 26843564, 27604308 ClinVar
Infantile Severe Myoclonic Epilepsy C0751122 GABRA1 Causal Pathogenic evidence from ClinVar 24623842 ClinVar
SCN1A Causal Pathogenic evidence from ClinVar 11359211, 12754708, 16054936, 16458823, 16921370, 17537961, 17928448, 19332696, 21463275, 21480876, 21647847, 23093055, 23808377, 23821540, 24412860, 26438699, 30185235 ClinVar
Juvenile myoclonic epilepsy 307 GABRA1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CILK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EFHC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Juvenile Myoclonic Epilepsy C0270853 GABRA1 Causal Pathogenic evidence from ClinVar 23756480, 23934111 ClinVar
CACNB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10762541, 23756480 -
CILK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29539279 -
CLCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12612585, 19191339, 23756480 -
CTF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30531953 -
EFHC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15258581, 17634063, 19147686, 22690745, 22727576, 22926142, 23756480, 28370826, 28475290, 31056551 -
Juvenile Myoclonic Epilepsy of Janz C4551857 GABRA1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10762541 -
Myoclonic Epilepsy, Adolescent C4552768 GABRA1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10762541 -
Myoclonic Epilepsy, Juvenile, 1 C4553087 GABRA1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10762541 -
Benign Infantile Myoclonic Epilepsy C0751120 SCN1A Causal Pathogenic evidence from ClinVar 21480876 ClinVar
Early Childhood Epilepsy, Myoclonic C0393695 SCN1A Causal Pathogenic evidence from ClinVar 21480876 ClinVar
Epilepsy, Myoclonic, Infantile C0917800 SCN1A Causal Pathogenic evidence from ClinVar 21480876 ClinVar
TBC1D24 Causal Pathogenic evidence from ClinVar 20727515, 20797691, 24291220, 25769375, 28292732, 28428906 ClinVar
CPLX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28422131 -
Idiopathic Myoclonic Epilepsy C0338478 SCN1A Causal Pathogenic evidence from ClinVar 21480876 ClinVar
Myoclonic Epilepsy C0014550 SCN1A Causal Pathogenic evidence from ClinVar 21480876 ClinVar
Symptomatic Myoclonic Epilepsy C0338479 SCN1A Causal Pathogenic evidence from ClinVar 21480876 ClinVar
Familial infantile myoclonic epilepsy 352582 TBC1D24 Causal Pathogenic evidence from ClinVar - ClinVar
CPLX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial Progressive Myoclonic Epilepsy C0751777 TBC1D24 Causal Pathogenic evidence from ClinVar 25401298 ClinVar
AFG3L2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25401298 -
ATN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CERS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLN6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25401298 -
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2 C1842852 ADRA2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11701600 -
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 C4015619 CERS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19243074, 24782409 -