Disease Term Disease ID Gene Symbol References
Hemimegalencephaly C0431391, 99802 MTOR 22729223
HRAS
IFNG
KRAS
NRAS
PIK3CA 22729223
PTEN
RHEB
SCN1A
TSC1
TSC2
DEPDC5
AKT3 22500628
SCN1A-AS1