Disease Term Disease ID Gene Symbol References
Agenesis of corpus callosum C0175754 ABAT
ACTB
ALX3
AMT
RERE
ATRX
BMP4
BUB1B
CDK5
CDK6
CENPF
COL4A1
COX7B
CPT2
CREBBP
CSF1R
CYP11A1
DAG1
DCC 28250456, 28250454
DCX
DHCR24
PHC1
EFNB1
EML1
EMX2
EP300
ERCC6
FKTN
GPC4
FGF8
FGFR1
FGFR2
FH
FOXG1
FLI1
GABRD
GAS1
GCSH
GDF1
GPC3
GLDC
GLI2
GLI3
GPX4
HCCS
HNRNPU
HSPA9
IGBP1
KRAS
L1CAM
LETM1
MID1
NFIA
NFIX
NODAL
NPHP1
SIX6
OTX2
PAK3 12884430, 24556213
PDHA1
PRRX1
POU1F1
PROP1
PTCH1
PYCR1
RAD51
SALL1
SHH
STIL
SIX3
SKI
SLC25A1
SMO
SOX2
SOX3
TAF13
TDGF1
TGIF1
NKX2-1
NSD2
NELFA
WNT3
ZIC1
ZIC2
ZNF148
TUBA1A
FZD3
ALX1
EOMES
OFD1
KCNAB2
DCHS1
HESX1
FOXH1
LARGE1
COPB2
RECQL4
NTN1
CEP135
PTDSS1
KIAA0753
FIG4
ARNT2
KIF14
MED12
SLC12A6
DNAL4
RXYLT1
TUBB3
ZBTB18
POMT1
VAX1
B4GAT1
CIT
POLR3A
RAB3GAP1
CEP152
ANKLE2
NCAPD3
RPGRIP1L
SPECC1L
ADNP
KAT6B 26938784
PIGN
KIF4A
RAB3GAP2
RTTN
SIN3A 27399968
AUTS2
PHGDH
HIBCH
B9D1
DISC1
DLL1
SETD2
PYCR2
GMPPB
POMT2
CDON
MRPS16
TRAPPC12
DACT1
MBTPS2
SUFU
TUBA8
BCL11A
NDUFB11
GTPBP2
AHI1
NDE1
MKS1
PPP2R3C
DYNC2I1
FANCI
TMLHE
TRAPPC14
CWF19L1
POMGNT1
FLVCR2
FRMD4A
VAC14
CDK5RAP2
CENPJ
INPP5E
KIF15
KNL1
ARID1B
WDR35
IFT80
ZSWIM6
EPG5
SLC25A19
ALX4
PIEZO2
PRDM16
PORCN
BCL11B 27959755
TMEM237
FKRP
FAT4
MCPH1
DYNC2H1
NARS2
EHMT1
PGAP1
SPG11
CEP63
DDX59
POMK
MFSD2A
POMGNT2
DISP1
SHANK3
LHX4
DYNC2I2
TICRR
CEP41
ADAT3
C12orf57
BORCS5
PROKR2
DIS3L2
B3GLCT
B3GALNT2
CEP120
SASS6
ARX
ASXL1
HYLS1
ASPM
WDR62
RSPO2
TUBB2B
KIF7
CRPPA
RNU4ATAC
TMLHE-AS1