| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACVR1
|
activin A receptor, type I
|
|
ALX3
|
ALX homeobox 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BEST1
|
bestrophin 1
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDHR1
|
cadherin-related family member 1
|
|
CERKL
|
ceramide kinase-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
EDN1
|
endothelin 1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
ERF
|
Ets2 repressor factor
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDF5
|
growth differentiation factor 5
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GSC
|
goosecoid homeobox
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HOXA2
|
homeobox A2
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAK
|
male germ cell-associated kinase
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
NEK2
|
NIMA-related kinase 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX1
|
paired box 1
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRDM5
|
PR domain containing 5
|
|
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)
|
|
PRRX1
|
paired related homeobox 1
|
|
PTCH1
|
patched 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
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
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SIX1
|
SIX homeobox 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOST
|
sclerostin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SQSTM1
|
sequestosome 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP63
|
tumor protein p63
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF513
|
zinc finger protein 513
|
