Retinal Dystrophy Gene Set
Genes
22 genes associated with the disease Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
C21ORF2
|
chromosome 21 open reading frame 2
|
|
CLTA
|
clathrin, light chain A
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
FFAR4
|
free fatty acid receptor 4
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
IFT140
|
intraflagellar transport 140
|
|
ITM2B
|
integral membrane protein 2B
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
RCBTB1
|
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
|
|
RDH11
|
retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TRPM3
|
transient receptor potential cation channel, subfamily M, member 3
|
|
TUB
|
tubby bipartite transcription factor
|
