| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANOS1
|
anosmin 1
|
|
APOE
|
apolipoprotein E
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
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
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BLK
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
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
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRX
|
cone-rod homeobox
|
|
CTSH
|
cathepsin H
|
|
CUL4B
|
cullin 4B
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYRK1B
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTO
|
fat mass and obesity associated
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GHR
|
growth hormone receptor
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD11B1
|
hydroxysteroid (11-beta) dehydrogenase 1
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAK
|
male germ cell-associated kinase
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MC4R
|
melanocortin 4 receptor
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEK2
|
NIMA-related kinase 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR0B2
|
nuclear receptor subfamily 0, group B, member 2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NTNG1
|
netrin G1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
P2RY11
|
purinergic receptor P2Y, G-protein coupled, 11
|
|
PAX6
|
paired box 6
|
|
PCNT
|
pericentrin
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PHF6
|
PHD finger protein 6
|
|
POMC
|
proopiomelanocortin
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
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
|
|
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)
|
|
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
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMAD4
|
SMAD family member 4
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
STX16
|
syntaxin 16
|
|
TACR3
|
tachykinin receptor 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX3
|
T-box 3
|
|
TNFSF4
|
tumor necrosis factor (ligand) superfamily, member 4
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VSX1
|
visual system homeobox 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR34
|
WD repeat domain 34
|
|
WT1
|
Wilms tumor 1
|
|
XYLT1
|
xylosyltransferase I
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZNF365
|
zinc finger protein 365
|
|
ZNF513
|
zinc finger protein 513
|
