Disease Term Disease ID Gene Symbol References
Absence of septum pellucidum C0431371 COL4A1
COX7B
CTBP1
DAG1
DHCR24
EZH2
FKTN
FGFR1
FGFR2
GRIK2
HCCS
HNMT
NDST1
KRAS
L1CAM
LETM1
MUSK
PIGA
PIGC
CLIP1
SARS1
ST3GAL3
SSR4
EZR
WHCR
NSD2
TUSC3
PRSS12
CRADD
HESX1
LARGE1
AIMP1
MED23
TECR
KIAA0586
PTDSS1
RXYLT1
WARS2
POMT1
KDM5B
CPLX1
B4GAT1
MAN1B1
TNIK
WASHC4
FRRS1L
PHGDH
DCPS
POMT2
PSAT1
SLC45A1
CRBN
RSRC1
MBTPS2
FGFRL1
NDUFB11
CC2D1A
NSUN2
LINS1
FANCI
POMGNT1
CHD7
FMN2
C12orf4
RALGAPB
PIEZO2
MBOAT7
FKRP
FBXO31
EHMT1
CSPP1
ZC3H14
PGAP1
EDC3
LMAN2L
MED25
TRAPPC9
POMK
POMGNT2
METTL23
B3GALNT2
HYLS1
KIF7
CRPPA