Congenital Blindness Gene Set
Genes
16 genes associated with the disease Congenital Blindness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
CEP290
|
centrosomal protein 290kDa
|
|
FZD4
|
frizzled class receptor 4
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NSMCE2
|
non-SMC element 2, MMS21 homolog (S. cerevisiae)
|
|
RD3
|
retinal degeneration 3
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
SARDH
|
sarcosine dehydrogenase
|
|
TSPAN12
|
tetraspanin 12
|
|
XRCC4
|
X-ray repair complementing defective repair in Chinese hamster cells 4
|
