Symbol |
Name |
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
ABHD12
|
abhydrolase domain containing 12
|
ADAM9
|
ADAM metallopeptidase domain 9
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
AMACR
|
alpha-methylacyl-CoA racemase
|
APC
|
adenomatous polyposis coli
|
APOB
|
apolipoprotein B
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
ARL6
|
ADP-ribosylation factor-like 6
|
ASPA
|
aspartoacylase
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
ATXN2
|
ataxin 2
|
ATXN7
|
ataxin 7
|
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
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
BEST1
|
bestrophin 1
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
BTD
|
biotinidase
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
C2ORF71
|
chromosome 2 open reading frame 71
|
C8ORF37
|
chromosome 8 open reading frame 37
|
CA4
|
carbonic anhydrase IV
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
CACNA2D4
|
calcium channel, voltage-dependent, alpha 2/delta subunit 4
|
CAPN5
|
calpain 5
|
CBS
|
cystathionine-beta-synthase
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
CDH23
|
cadherin-related 23
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
CDHR1
|
cadherin-related family member 1
|
CEP164
|
centrosomal protein 164kDa
|
CEP290
|
centrosomal protein 290kDa
|
CERKL
|
ceramide kinase-like
|
CHM
|
choroideremia (Rab escort protein 1)
|
CIB2
|
calcium and integrin binding family member 2
|
CLDN19
|
claudin 19
|
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
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
COL11A1
|
collagen, type XI, alpha 1
|
COL4A1
|
collagen, type IV, alpha 1
|
COL9A1
|
collagen, type IX, alpha 1
|
COL9A2
|
collagen, type IX, alpha 2
|
COL9A3
|
collagen, type IX, alpha 3
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
COX1
|
|
COX2
|
|
COX3
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
CRX
|
cone-rod homeobox
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
CTSD
|
cathepsin D
|
DFNB31
|
deafness, autosomal recessive 31
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
EDN3
|
endothelin 3
|
EDNRB
|
endothelin receptor type B
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
ERCC1
|
excision repair cross-complementation group 1
|
ERCC2
|
excision repair cross-complementation group 2
|
ERCC5
|
excision repair cross-complementation group 5
|
ERCC6
|
excision repair cross-complementation group 6
|
ERCC8
|
excision repair cross-complementation group 8
|
EYS
|
eyes shut homolog (Drosophila)
|
FAM161A
|
family with sequence similarity 161, member A
|
FLCN
|
folliculin
|
FLNB
|
filamin B, beta
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
FZD4
|
frizzled class receptor 4
|
GATA3
|
GATA binding protein 3
|
GDF6
|
growth differentiation factor 6
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
GSS
|
glutathione synthetase
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
HARS
|
histidyl-tRNA synthetase
|
HCCS
|
holocytochrome c synthase
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
IDS
|
iduronate 2-sulfatase
|
IFT140
|
intraflagellar transport 140
|
IFT172
|
intraflagellar transport 172
|
IFT27
|
intraflagellar transport 27
|
IFT80
|
intraflagellar transport 80
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
INVS
|
inversin
|
IQCB1
|
IQ motif containing B1
|
JAG1
|
jagged 1
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
KIF11
|
kinesin family member 11
|
KIF7
|
kinesin family member 7
|
KIZ
|
kizuna centrosomal protein
|
KLHL7
|
kelch-like family member 7
|
LCA5
|
Leber congenital amaurosis 5
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
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-ATP8
|
ATP synthase F0 subunit 8
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
MT-TF
|
tRNA
|
MT-TH
|
tRNA
|
MT-TL1
|
tRNA
|
MT-TQ
|
tRNA
|
MT-TS1
|
tRNA
|
MT-TS2
|
tRNA
|
MT-TW
|
tRNA
|
MTTP
|
microsomal triglyceride transfer protein
|
MVK
|
mevalonate kinase
|
MYO7A
|
myosin VIIA
|
ND1
|
|
NEK2
|
NIMA-related kinase 2
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
NPHP4
|
nephronophthisis 4
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
NRL
|
neural retina leucine zipper
|
OCA2
|
oculocutaneous albinism II
|
OFD1
|
oral-facial-digital syndrome 1
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
PANK2
|
pantothenate kinase 2
|
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
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
PDZD7
|
PDZ domain containing 7
|
PEPD
|
peptidase D
|
PEX1
|
peroxisomal biogenesis factor 1
|
PEX10
|
peroxisomal biogenesis factor 10
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
PEX12
|
peroxisomal biogenesis factor 12
|
PEX13
|
peroxisomal biogenesis factor 13
|
PEX14
|
peroxisomal biogenesis factor 14
|
PEX16
|
peroxisomal biogenesis factor 16
|
PEX19
|
peroxisomal biogenesis factor 19
|
PEX2
|
peroxisomal biogenesis factor 2
|
PEX26
|
peroxisomal biogenesis factor 26
|
PEX3
|
peroxisomal biogenesis factor 3
|
PEX5
|
peroxisomal biogenesis factor 5
|
PEX6
|
peroxisomal biogenesis factor 6
|
PEX7
|
peroxisomal biogenesis factor 7
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
PITPNM3
|
PITPNM family member 3
|
PMM2
|
phosphomannomutase 2
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
POC1B
|
POC1 centriolar protein B
|
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)
|
PRRT2
|
proline-rich transmembrane protein 2
|
PTEN
|
phosphatase and tensin homolog
|
RAB18
|
RAB18, member RAS oncogene family
|
RAB28
|
RAB28, member RAS oncogene family
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
RAX2
|
retina and anterior neural fold homeobox 2
|
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
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
RLBP1
|
retinaldehyde binding protein 1
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
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
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
SLC45A2
|
solute carrier family 45, member 2
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
SLC7A14
|
solute carrier family 7, member 14
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
SOX10
|
SRY (sex determining region Y)-box 10
|
SPATA7
|
spermatogenesis associated 7
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
SUMF1
|
sulfatase modifying factor 1
|
TBC1D20
|
TBC1 domain family, member 20
|
TMEM98
|
transmembrane protein 98
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
TREX1
|
three prime repair exonuclease 1
|
TRIM32
|
tripartite motif containing 32
|
TRIM37
|
tripartite motif containing 37
|
TSC1
|
tuberous sclerosis 1
|
TSC2
|
tuberous sclerosis 2
|
TSPAN12
|
tetraspanin 12
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
TTC8
|
tetratricopeptide repeat domain 8
|
TTPA
|
tocopherol (alpha) transfer protein
|
TUB
|
tubby bipartite transcription factor
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
TULP1
|
tubby like protein 1
|
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)
|
VCAN
|
versican
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
WDR19
|
WD repeat domain 19
|
WDR34
|
WD repeat domain 34
|
WDR60
|
WD repeat domain 60
|
WRN
|
Werner syndrome, RecQ helicase-like
|
ZNF513
|
zinc finger protein 513
|