| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGK
|
acylglycerol kinase
|
|
AGPS
|
alkylglycerone phosphate synthase
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
APOE
|
apolipoprotein E
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASB10
|
ankyrin repeat and SOCS box containing 10
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
BCOR
|
BCL6 corepressor
|
|
BEST1
|
bestrophin 1
|
|
BFSP1
|
beaded filament structural protein 1, filensin
|
|
BFSP2
|
beaded filament structural protein 2, phakinin
|
|
BMP4
|
bone morphogenetic protein 4
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C2
|
complement component 2
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C3
|
complement component 3
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
C9
|
complement component 9
|
|
CA4
|
carbonic anhydrase IV
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFB
|
complement factor B
|
|
CFH
|
complement factor H
|
|
CFHR2
|
complement factor H-related 2
|
|
CFHR4
|
complement factor H-related 4
|
|
CFHR5
|
complement factor H-related 5
|
|
CFI
|
complement factor I
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHMP4B
|
charged multivesicular body protein 4B
|
|
CHN1
|
chimerin 1
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
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
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBA1
|
crystallin, beta A1
|
|
CRYBA2
|
crystallin, beta A2
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYBB3
|
crystallin, beta B3
|
|
CRYGB
|
crystallin, gamma B
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CRYGS
|
crystallin, gamma S
|
|
CST3
|
cystatin C
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPHA2
|
EPH receptor A2
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
F13B
|
coagulation factor XIII, B polypeptide
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FBLN5
|
fibulin 5
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXE3
|
forkhead box E3
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTL
|
ferritin, light polypeptide
|
|
FYCO1
|
FYVE and coiled-coil domain containing 1
|
|
FZD4
|
frizzled class receptor 4
|
|
GALK1
|
galactokinase 1
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRK1
|
G protein-coupled receptor kinase 1
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HCCS
|
holocytochrome c synthase
|
|
HMCN1
|
hemicentin 1
|
|
HMGB3
|
high mobility group box 3
|
|
HMX1
|
H6 family homeobox 1
|
|
HSF4
|
heat shock transcription factor 4
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KLHL7
|
kelch-like family member 7
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
|
LIPC
|
lipase, hepatic
|
|
LOXL1
|
lysyl oxidase-like 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRIT3
|
leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAK
|
male germ cell-associated kinase
|
|
MAP2
|
microtubule-associated protein 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MVK
|
mevalonate kinase
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEK2
|
NIMA-related kinase 2
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NTF4
|
neurotrophin 4
|
|
NYX
|
nyctalopin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPTN
|
optineurin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAX6
|
paired box 6
|
|
PCDH15
|
protocadherin-related 15
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDZD7
|
PDZ domain containing 7
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PITPNM3
|
PITPNM family member 3
|
|
PITX2
|
paired-like homeodomain 2
|
|
PITX3
|
paired-like homeodomain 3
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RAX2
|
retina and anterior neural fold homeobox 2
|
|
RB1
|
retinoblastoma 1
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
RGR
|
retinal G protein coupled receptor
|
|
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)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SHH
|
sonic hedgehog
|
|
SIX6
|
SIX homeobox 6
|
|
SLC16A12
|
solute carrier family 16, member 12
|
|
SLC24A1
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNX3
|
sorting nexin 3
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TBK1
|
TANK-binding kinase 1
|
|
TDRD7
|
tudor domain containing 7
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TLR4
|
toll-like receptor 4
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTLL5
|
tubulin tyrosine ligase-like family member 5
|
|
TULP1
|
tubby like protein 1
|
|
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)
|
|
VAX1
|
ventral anterior homeobox 1
|
|
VCAN
|
versican
|
|
VIM
|
vimentin
|
|
VSX2
|
visual system homeobox 2
|
|
WDR19
|
WD repeat domain 19
|
|
WDR36
|
WD repeat domain 36
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZNF513
|
zinc finger protein 513
|
