Retinal Dystrophies Gene Set
Genes
25 genes associated with the Retinal Dystrophies phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACBD5
|
acyl-CoA binding domain containing 5
|
|
ADGRA3
|
adhesion G protein-coupled receptor A3
|
|
BEST1
|
bestrophin 1
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C21ORF2
|
chromosome 21 open reading frame 2
|
|
C3
|
complement component 3
|
|
CFH
|
complement factor H
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
DTHD1
|
death domain containing 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EMC1
|
ER membrane protein complex subunit 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
KIAA1549
|
KIAA1549
|
|
MT-TL1
|
tRNA
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
RBP1
|
retinol binding protein 1, cellular
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
