| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTB
|
actin, beta
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AHR
|
aryl hydrocarbon receptor
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AP3B2
|
adaptor-related protein complex 3, beta 2 subunit
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
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
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C21ORF2
|
chromosome 21 open reading frame 2
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLDN19
|
claudin 19
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLRN1
|
clarin 1
|
|
CLTA
|
clathrin, light chain A
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CTSD
|
cathepsin D
|
|
CWC27
|
CWC27 spliceosome-associated protein homolog (S. cerevisiae)
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHX38
|
DEAH (Asp-Glu-Ala-His) box polypeptide 38
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EXOSC2
|
exosome component 2
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FDXR
|
ferredoxin reductase
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GATA3
|
GATA binding protein 3
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCA2A
|
guanylate cyclase activator 2A (guanylin)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HMX1
|
H6 family homeobox 1
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT54
|
intraflagellar transport 54
|
|
IFT74
|
intraflagellar transport 74
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
IQCB1
|
IQ motif containing B1
|
|
KIF5A
|
kinesin family member 5A
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MAK
|
male germ cell-associated kinase
|
|
MAP9
|
microtubule-associated protein 9
|
|
MAPKAPK3
|
mitogen-activated protein kinase-activated protein kinase 3
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND2
|
MTND2
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MYO7A
|
myosin VIIA
|
|
ND1
|
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NEK2
|
NIMA-related kinase 2
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP4
|
nephronophthisis 4
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRG4
|
neuregulin 4
|
|
NRL
|
neural retina leucine zipper
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PCDH15
|
protocadherin-related 15
|
|
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
|
|
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
|
|
PITPNM3
|
PITPNM family member 3
|
|
PMM2
|
phosphomannomutase 2
|
|
POC1B
|
POC1 centriolar protein B
|
|
POGZ
|
pogo transposable element with ZNF domain
|
|
PPP2R3C
|
protein phosphatase 2, regulatory subunit B'', gamma
|
|
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
|
|
PRPH
|
peripherin
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RANGAP1
|
Ran GTPase activating protein 1
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
REEP6
|
receptor accessory protein 6
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIMS1
|
regulating synaptic membrane exocytosis 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
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
TMEM67
|
transmembrane protein 67
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TST
|
thiosulfate sulfurtransferase (rhodanese)
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TULP1
|
tubby like protein 1
|
|
TULP2
|
tubby like protein 2
|
|
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)
|
|
WDR19
|
WD repeat domain 19
|
|
ZNF408
|
zinc finger protein 408
|
|
ZNF513
|
zinc finger protein 513
|
