Disease Term Disease ID Gene Symbol References
Hypoplasia of the optic nerve C0338502 ALDH1A3
CENPF
COL4A1
COL4A2
DHCR7
DNMT3A
FKTN
FOXE3
GLI2
MEF2C
SIX6
OTX2
PAX6 12721955
PEX1
PPP1CB
MAP2K2
SON
SOX2
WT1
RNF113A
TUBA1A
CASK
CDK13 28807008
HESX1 26416826
HERC2
LARGE1
KIF14
MED12
TUBB3
POMT1
PUF60
RTTN
AUTS2
ANKRD11
GMPPB
POMT2
MBTPS2
TUBA8
NDE1
ATAD3A
FANCI
POMGNT1
RALGAPB
GATAD2B
FKRP
RNASEH2B
SRD5A3
POMK
RNF135
TICRR
B3GALNT2
PTF1A
KIF7
CRPPA