Disease Term Disease ID Gene Symbol References
Myotonia Levior C0270959 CLCN1 20399394
SCN4A 1316765
Myoclonic Absence Epilepsy C0393703 PMP22 17275665
POMC 6088243
SCN1A 21480876
SCN9A
STXBP1 18469812
RAPGEF2 29507423
TNRC6A 29507423
SAMD12 29507423