Disease Term Disease ID Gene Symbol References
Dandy-Walker Syndrome C0010964 ATP6V1A
ATP6V1E1
BUB1
BUB1B
CHN1
COL4A1
DAG1
DHCR7
DPH1
DWS
EVC
FKTN
GPC4
FGFR1
FOXC1 19668217, 23686687
B4GALT1
GPC3
GLI3
HRAS
ITPR1
KRAS
MAB21L1
MUSK
MYOD1
NID1 30773799
NRAS
NUP88
PLG
PMM2
PPP1CB
RAPSN
DPF2
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SOX4
SOX11
SLC35A2
WFS1
RNF113A
USP9X
ARID1A
OFD1
BUB3
LARGE1
TRIP13
CEP57
SEMA3E
KIAA0586
WASHC5
RXYLT1
POMT1
EBP
MAGED2
B4GAT1
POLR3A
RPGRIP1L
ATP6V0A2
PIGN
C2CD3
PHGDH
NPHP3
B9D1
CCDC22
POMT2
PSAT1
WDPCP
TMEM216
SUFU
MKS1
DYNC2I1
CEP55
POMGNT1
CHD7
FLVCR2
KLHL7
SMG9
RPGRIP1
TBC1D24
ARID1B
WDR35
CC2D2A
IFT80
MARK4
PIEZO2
TMEM237
FTO
FKRP
TMEM231
DYNC2H1
CSPP1
TCTN2
CEP290
B9D2
TMEM47
KIAA1109
POMK
TMEM107
POMGNT2
DYNC2I2
EXOC3L2 30327448, 27894351
TMEM67
WDR81
EVC2
B3GALNT2
CEP120
ASXL1
ARID2
HYLS1
DOK7
KIF7
CRPPA
Dandy-Walker Syndrome, Familial C3887633 FOXC1 19668217