Holoprosencephaly

Disease Term Disease ID Gene Symbol References
Holoprosencephaly C0079541 BUB1
BUB1B
DHCR7
FKTN
FGF8 27363716
FGFR1
FGFR3
GAS1 17525797
GLI2 27585885
GLI3
HOXA2
HPE1
L1CAM
PPP1R12A 31883643
NODAL 27363716, 23264560
OTX2
PRRX1
POU1F1
PROP1
PTCH1
RB1
SHH 12032320, 23264560, 17525797, 27585885, 15107988, 7550324
SIX3 10369266
SOX2
TDGF1 12073012
TGIF1 16705179
ZIC2
ARID1A
MATN4
HESX1
FOXH1 27363716
PSTPIP1
BUB3
LARGE1
TRIP13
CEP57
SEMA3E
HUWE1
POMT1
CILK1
C2CD3
GPKOW
DLL1
GMPPB
POMT2
CDON 21802063
SUFU
POMGNT1
CHD7
TWSG1 15013800
FKRP
DISP1 27363716
LHX4
WDR81
B3GALNT2
HOLOPROSENCEPHALY 11 C3280215 CDON 21802063
HOLOPROSENCEPHALY 2 (disorder) C1834877 SIX3 18791198, 20531442, 15523651, 15221788, 21976454, 10369266, 17001667
ZIC2
HOLOPROSENCEPHALY 3 C1840529 SHH 9302262, 12503095, 10441331, 8896572, 19603532, 11479728, 7550324, 15221788, 15107988, 15942953, 10556296, 17001669, 22897141, 15942952, 16282375
SIX3
HOLOPROSENCEPHALY 4 (disorder) C1840528 SIX3
TGIF1 15221788, 11810641, 16962354, 23476075, 10835638
ZIC2
HOLOPROSENCEPHALY 5 C1864827 SIX3 11039582
TGIF1
ZIC2 11285244, 24706429, 9771712, 19955556, 19177455, 15590697, 21976454, 15221788
HOLOPROSENCEPHALY 7 C1835820 PTCH1 17096318, 17001668, 26893459, 11941477, 8658145
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) C1835819 GLI2 25878059, 14581620, 20685856, 17096318