optic nerve coloboma Gene Set
Genes
17 genes associated with the optic nerve coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
BCOR
|
BCL6 corepressor
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PTCH1
|
patched 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM67
|
transmembrane protein 67
|