| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABLIM1
|
actin binding LIM protein 1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AOC2
|
amine oxidase, copper containing 2 (retina-specific)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARR3
|
arrestin 3, retinal (X-arrestin)
|
|
ATXN7
|
ataxin 7
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BEST1
|
bestrophin 1
|
|
BFSP2
|
beaded filament structural protein 2, phakinin
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNB2
|
calcium channel, voltage-dependent, beta 2 subunit
|
|
CDH23
|
cadherin-related 23
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNB2
|
cholinergic receptor, nicotinic, beta 2 (neuronal)
|
|
CLDN19
|
claudin 19
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRX
|
cone-rod homeobox
|
|
CRYBA1
|
crystallin, beta A1
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYBB3
|
crystallin, beta B3
|
|
CRYGA
|
crystallin, gamma A
|
|
CRYGB
|
crystallin, gamma B
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CRYZ
|
crystallin, zeta (quinone reductase)
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHRS3
|
dehydrogenase/reductase (SDR family) member 3
|
|
DLL4
|
delta-like 4 (Drosophila)
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
EFEMP1
|
EGF containing fibulin-like extracellular matrix protein 1
|
|
EML2
|
echinoderm microtubule associated protein like 2
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
EYA3
|
EYA transcriptional coactivator and phosphatase 3
|
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GABRR2
|
gamma-aminobutyric acid (GABA) A receptor, rho 2
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJC1
|
gap junction protein, gamma 1, 45kDa
|
|
GJD2
|
gap junction protein, delta 2, 36kDa
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRK1
|
G protein-coupled receptor kinase 1
|
|
GRK7
|
G protein-coupled receptor kinase 7
|
|
GRM8
|
glutamate receptor, metabotropic 8
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCA1C
|
guanylate cyclase activator 1C
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GUCY2F
|
guanylate cyclase 2F, retinal
|
|
HMCN1
|
hemicentin 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KERA
|
keratocan
|
|
KIFC3
|
kinesin family member C3
|
|
KRT12
|
keratin 12, type I
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMC3
|
laminin, gamma 3
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LUM
|
lumican
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MYO3A
|
myosin IIIA
|
|
MYO3B
|
myosin IIIB
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
MYO9A
|
myosin IXA
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NOB1
|
NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)
|
|
NR2E1
|
nuclear receptor subfamily 2, group E, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NXNL2
|
nucleoredoxin-like 2
|
|
NYX
|
nyctalopin
|
|
OAT
|
ornithine aminotransferase
|
|
OCLM
|
oculomedin
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPN1SW
|
opsin 1 (cone pigments), short-wave-sensitive
|
|
OPN4
|
opsin 4
|
|
OPN5
|
opsin 5
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PCDH15
|
protocadherin-related 15
|
|
PDC
|
phosducin
|
|
PDCL
|
phosducin-like
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PITPNA
|
phosphatidylinositol transfer protein, alpha
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PPEF2
|
protein phosphatase, EF-hand calcium binding domain 2
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRR4
|
proline rich 4 (lacrimal)
|
|
RABGGTA
|
Rab geranylgeranyltransferase, alpha subunit
|
|
RABGGTB
|
Rab geranylgeranyltransferase, beta subunit
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RAX2
|
retina and anterior neural fold homeobox 2
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RCVRN
|
recoverin
|
|
RD3
|
retinal degeneration 3
|
|
RDH10
|
retinol dehydrogenase 10 (all-trans)
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RDH8
|
retinol dehydrogenase 8 (all-trans)
|
|
RGR
|
retinal G protein coupled receptor
|
|
RGS16
|
regulator of G-protein signaling 16
|
|
RGS9
|
regulator of G-protein signaling 9
|
|
RHO
|
rhodopsin
|
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RRH
|
retinal pigment epithelium-derived rhodopsin homolog
|
|
RS1
|
retinoschisin 1
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SFRP5
|
secreted frizzled-related protein 5
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SLC24A1
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
|
|
SLC24A2
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 2
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SOX14
|
SRY (sex determining region Y)-box 14
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TH
|
tyrosine hydroxylase
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TULP1
|
tubby like protein 1
|
|
TULP2
|
tubby like protein 2
|
|
TYR
|
tyrosinase
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAX2
|
ventral anterior homeobox 2
|
|
VSX1
|
visual system homeobox 1
|
|
VSX2
|
visual system homeobox 2
|
|
WDR36
|
WD repeat domain 36
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZIC2
|
Zic family member 2
|
|
ZNF513
|
zinc finger protein 513
|
