| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACTB
|
actin, beta
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANOS1
|
anosmin 1
|
|
AR
|
androgen receptor
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
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
|
|
BEST1
|
bestrophin 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDC6
|
cell division cycle 6
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
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
|
|
CUL4B
|
cullin 4B
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCX
|
doublecortin
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
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
|
|
GATA4
|
GATA binding protein 4
|
|
GHR
|
growth hormone receptor
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
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
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LHX4
|
LIM homeobox 4
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAK
|
male germ cell-associated kinase
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK2
|
NIMA-related kinase 2
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PHF6
|
PHD finger protein 6
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
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)
|
|
PRRX1
|
paired related homeobox 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
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
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
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)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
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
|
|
SETBP1
|
SET binding protein 1
|
|
SHH
|
sonic hedgehog
|
|
SKI
|
SKI proto-oncogene
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
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
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX3
|
T-box 3
|
|
TCF4
|
transcription factor 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TMEM5
|
transmembrane protein 5
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZNF513
|
zinc finger protein 513
|
