Disease Term Disease ID Gene Symbol References
Lobar Holoprosencephaly C0431362, 93924 FGF8
FGFR1 27363716
GAS1 17525797
GLI2 27585885
NODAL 23264560
PTCH1
SHH 27585885, 17525797, 15107988, 23264560
SIX3 10369266
TDGF1 12073012
TGIF1 16705179
ZIC2
FOXH1
RPGRIP1L
RTTN
B9D1
DLL1
CDON
WDPCP
TMEM216
MKS1
CEP55
CHD7
TWSG1 15013800
RPGRIP1
CC2D2A
TMEM231
CSPP1
TCTN2
CEP290
B9D2
TMEM107
DISP1
TMEM67