| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
APOA1
|
apolipoprotein A-I
|
|
APOE
|
apolipoprotein E
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
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
|
|
C2
|
complement component 2
|
|
CA4
|
carbonic anhydrase IV
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CDH23
|
cadherin-related 23
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CFB
|
complement factor B
|
|
CFH
|
complement factor H
|
|
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
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
EFEMP1
|
EGF containing fibulin-like extracellular matrix protein 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NRL
|
neural retina leucine zipper
|
|
NYX
|
nyctalopin
|
|
OCA2
|
oculocutaneous albinism II
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1SW
|
opsin 1 (cone pigments), short-wave-sensitive
|
|
OPTN
|
optineurin
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PCDH15
|
protocadherin-related 15
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
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
|
|
RS1
|
retinoschisin 1
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
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)
|
