| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGK
|
acylglycerol kinase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
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
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA2D4
|
calcium channel, voltage-dependent, alpha 2/delta subunit 4
|
|
CAPN5
|
calpain 5
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GDF6
|
growth differentiation factor 6
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT27
|
intraflagellar transport 27
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
IQCB1
|
IQ motif containing B1
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
LARGE
|
like-glycosyltransferase
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAK
|
male germ cell-associated kinase
|
|
MCOLN1
|
mucolipin 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MT-TS2
|
tRNA
|
|
MYO7A
|
myosin VIIA
|
|
NEK2
|
NIMA-related kinase 2
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OPN1SW
|
opsin 1 (cone pigments), short-wave-sensitive
|
|
PCDH15
|
protocadherin-related 15
|
|
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
|
|
PDZD7
|
PDZ domain containing 7
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RNF216
|
ring finger protein 216
|
|
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
|
|
RS1
|
retinoschisin 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
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VSX1
|
visual system homeobox 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
ZNF513
|
zinc finger protein 513
|
