Disease Term Disease ID Gene Symbol References
Myoclonic Astatic Epilepsy C0393702 CHD2 23708187
AP2M1 31104773
PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
SLC6A1 25865495
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423