Disease Term Disease ID Gene Symbol References
Congenital anomaly of face C0266617 MTOR
MAP2K1 17981815, 17567882, 18042262, 17366577, 16439621, 17551924, 19156172
SLC2A1
SOX4 30661772
NUP214
SHOC2 22528146, 19684605
FIBP
TTC37 28292286