Disease Term Disease ID Gene Symbol References
Symptomatic Infantile Spasms C0393699 CRH 11341487
HSD17B4 16919904
POMC 1656808, 6143199, 6259007, 11341487, 2983143, 8980841, 1965992, 17287597, 19039989, 10908253, 1327015, 8381257, 2853496, 1324751, 2551692, 2554740, 8928979, 20078871, 6254450, 6107850
TSC1 18345974
TSC2 18345974
UPB1 18853477