Disease Term Disease ID Gene Symbol References
Malformations of Cortical Development, Group II C1837249 ATP1A2 30690204
CDH2 17222817
CRX
DCX 29706646
DYNC1H1 28554554, 29706646
EP300 29706646
FGFR3
FLNA
MTOR 27159400
GUCY2D
IMPDH1
KCNJ13
COX1
COX2
COX3
ND1
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNQ
TRNS1
TRNS2
TRNW
NBN
PCYT1A
PDE6D
PDGFB
PDGFRB
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PEX19
PEX2
PEX5
RPE65
RPS6KA3
SCN1A
SLC20A2
TULP1
TUBA1A 29706646
STX7 26395554
OFD1
PEX3
PEX11B
XPR1
LARGE1
LRAT
PEX16
EIF2AK3
IQCB1
IFT140
KIAA0753
WASHC5
TUBB3 29706646
PLK4
ZNF423
RPGRIP1L
CRB1
AIPL1
TCTN3
TUBGCP4
CCDC22
TMEM216
TMEM138
PEX26
SPATA7
INPP5E
RPGRIP1
MYORG
CC2D2A
NMNAT1
TMEM237
CPLANE1
TMEM231
CEP290
USP45
TUBGCP6
TMEM67
RDH12
LCA5
ASPM 29706646
FAM149B1
RD3
KIF7
GDF6
EP300-AS1 29706646
SCN1A-AS1
Malformations of Cortical Development C1955869 DYNC1H1 23603762
MTOR 22729223
HRAS 27935819
NDST1 16020517
KIF2A 23603762
KIF5C 23603762
PIK3CA 22729223
SLC1A1 11906504
TBCD 27666370
TUBG1 23603762
TUBA1A
AKT3 22729223
KIFBP 15883926
WDR62 23341463
TUBB2B 19465910