Disease Term Disease ID Gene Symbol References
Nodding spasm C0546878 CRH 11341487
HSD17B4 16919904
KIF2A
POMC 6254450, 6143199, 8381257, 6259007, 2554740, 20078871, 19039989, 2983143, 10908253, 2853496, 8928979, 1965992, 17287597, 2551692, 1324751, 8980841, 11341487, 1327015, 1656808, 6107850
TSC1 18345974
TSC2 18345974
DIMT1
UPB1 18853477
spasmus nutans C1527306 CRH 11341487
HSD17B4 16919904
POMC 2554740, 1324751, 6143199, 6107850, 6259007, 11341487, 2853496, 1965992, 10908253, 1327015, 8381257, 8928979, 1656808, 20078871, 19039989, 6254450, 2983143, 8980841, 17287597, 2551692
TSC1 18345974
TSC2 18345974
UPB1 18853477