Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSIES, MYOCLONIC PMP22 Unknown CTD
POMC Unknown CTD
RAPGEF2 Unknown CTD
SAMD12 Unknown CTD
SCN1A Unknown CTD
STXBP1 Unknown CTD
TNRC6A Unknown CTD
JUVENILE MYOCLONIC EPILEPSY CAPRIN1 Causal Disgenet
GABRA1 Causal Disgenet Orphanet
BRD2 Unknown Disgenet
CACNB4 Unknown Disgenet Orphanet
CHRNA1 Unknown Disgenet
CILK1 Unknown Disgenet Orphanet
CLCN2 Unknown Disgenet Orphanet
CTF1 Unknown GWAS catalog
EFHC1 Unknown ClinVar Disgenet Orphanet
GABRA2 Unknown GWAS catalog
GABRD Unknown Disgenet Orphanet
HSD17B3 Unknown Disgenet
JRK Unknown Disgenet Orphanet
KCNQ3 Unknown Disgenet Orphanet
TMEM74 Unknown GWAS catalog
MYOCLONIC EPILEPSY CHRNA2 Unknown Disgenet
PMP22 Unknown Disgenet
POMC Unknown Disgenet
PRICKLE2 Unknown Disgenet
RAPGEF2 Unknown Disgenet
SAMD12 Unknown Disgenet
SCN1A Unknown Disgenet
STXBP1 Unknown Disgenet
TNRC6A Unknown Disgenet