| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGA
|
aspartylglucosaminidase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALX3
|
ALX homeobox 3
|
|
ALX4
|
ALX homeobox 4
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B9D1
|
B9 protein domain 1
|
|
BCOR
|
BCL6 corepressor
|
|
BEST1
|
bestrophin 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CD96
|
CD96 molecule
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHN1
|
chimerin 1
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNTN4
|
contactin 4
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRBN
|
cereblon
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CUL7
|
cullin 7
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FBN1
|
fibrillin 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNB
|
filamin B, beta
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTO
|
fat mass and obesity associated
|
|
GBA
|
glucosidase, beta, acid
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPC6
|
glypican 6
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HOXB1
|
homeobox B1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT43
|
intraflagellar transport 43
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INS
|
insulin
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF11
|
kinesin family member 11
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LEMD3
|
LEM domain containing 3
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
MAK
|
male germ cell-associated kinase
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MID1
|
midline 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NEK2
|
NIMA-related kinase 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OBSL1
|
obscurin-like 1
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX1
|
paired box 1
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
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
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPRF
|
protein tyrosine phosphatase, receptor type, F
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNF135
|
ring finger protein 135
|
|
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
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SETBP1
|
SET binding protein 1
|
|
SHH
|
sonic hedgehog
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBX6
|
T-box 6
|
|
TCF4
|
transcription factor 4
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TULP1
|
tubby like protein 1
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
XYLT1
|
xylosyltransferase I
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF513
|
zinc finger protein 513
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
