| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATM
|
ATM serine/threonine kinase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BEST1
|
bestrophin 1
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CAPN5
|
calpain 5
|
|
CDHR1
|
cadherin-related family member 1
|
|
CERKL
|
ceramide kinase-like
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTSA
|
cathepsin A
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DNM2
|
dynamin 2
|
|
DUX4
|
double homeobox 4
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FOXC1
|
forkhead box C1
|
|
FRG1
|
FSHD region gene 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FZD4
|
frizzled class receptor 4
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GDF2
|
growth differentiation factor 2
|
|
GLA
|
galactosidase, alpha
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPH
|
lipase, member H
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAK
|
male germ cell-associated kinase
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEK2
|
NIMA-related kinase 2
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH3
|
notch 3
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
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)
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
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)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SETX
|
senataxin
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SMAD4
|
SMAD family member 4
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TBL2
|
transducin (beta)-like 2
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
ZNF513
|
zinc finger protein 513
|
