aplasia/hypoplasia of the optic nerve Gene Set
Genes
28 genes associated with the aplasia/hypoplasia of the optic nerve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
DDHD2
|
DDHD domain containing 2
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
GALNTL5
|
polypeptide N-acetylgalactosaminyltransferase-like 5
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GLI2
|
GLI family zinc finger 2
|
|
HESX1
|
HESX homeobox 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX6
|
paired box 6
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
TUBA8
|
tubulin, alpha 8
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
