coloboma Gene Set
Genes
24 gene mutations causing the coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol |
Name |
|
ARHGAP35
|
Rho GTPase activating protein 35
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
GAS1
|
growth arrest-specific 1
|
|
GLCE
|
glucuronic acid epimerase
|
|
GRHL2
|
grainyhead-like 2 (Drosophila)
|
|
HS2ST1
|
heparan sulfate 2-O-sulfotransferase 1
|
|
IFT88
|
intraflagellar transport 88
|
|
JAG1
|
jagged 1
|
|
KDM2B
|
lysine (K)-specific demethylase 2B
|
|
LRP6
|
low density lipoprotein receptor-related protein 6
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MYO10
|
myosin X
|
|
NDST1
|
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PHACTR4
|
phosphatase and actin regulator 4
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
RPL24
|
ribosomal protein L24
|
|
RPS7
|
ribosomal protein S7
|
|
RYBP
|
RING1 and YY1 binding protein
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
VAX1
|
ventral anterior homeobox 1
|
|
VAX2
|
ventral anterior homeobox 2
|
