Disease Term Disease ID Gene Symbol References
Coloboma of optic disc C0155299 ACTB
ACTG1
DDX11
FOXE3
IGBP1
PAX2 26571382
PAX6 2855731, 12721955, 16604056, 17148041, 7550230
PMM2
SALL2 24412933
SMO
TFAP2A 25590586
FZD5 26908622
NAA10
ABCB6 22226084
SPINT2 24142340
RPGRIP1L
NIPBL
SH2B1
C2CD3
ELP4
TMEM216
BCOR
KIF26B 26571382
INPP5E
SALL4
CC2D2A
TMEM67