Disease Term Disease ID Gene Symbol References
Septo-Optic Dysplasia C0338503 FGFR1 22319038
GLI2
OTX2 24802313, 21396578
POU1F1
PROP1
ROBO1
SOX2 21396578, 24802313, 19623216, 17587179
SOX3 21396578, 17587179, 24802313
WNT3
LHX3
HESX1 19623216, 9620767, 14561704, 21396578, 11136712, 11748154, 17587179, 19093031, 26781211, 23465708, 24802313, 26416826, 17148560
ARNT2 24022475
GPR161
CDON
WDR11
RALGAPB
LHX4
PROKR2 22319038
RSPO2
Septo-optic dysplasia spectrum 3157 PROKR2
SOX2
FGFR1
HESX1
OTX2
SOX3
ARNT2