Disease Term Disease ID Gene Symbol References
Semilobar Holoprosencephaly C0751617, 220386 FGF8
FGFR1 27363716
GAS1 17525797
GLI2 27585885
NODAL 23264560
PTCH1
SHH 17525797, 23264560, 27585885, 15107988
SIX3 10369266
TDGF1 12073012
TGIF1 16705179
ZIC2
FOXH1
DLL1
CDON
TWSG1 15013800
DISP1
STAG2
SMC1A