| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
ANOS1
|
anosmin 1
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
BEST1
|
bestrophin 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
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
|
|
CRH
|
corticotropin releasing hormone
|
|
CRX
|
cone-rod homeobox
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GH1
|
growth hormone 1
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GYS2
|
glycogen synthase 2 (liver)
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HESX1
|
HESX homeobox 1
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INSR
|
insulin receptor
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KIAA0196
|
KIAA0196
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LMNA
|
lamin A/C
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MAK
|
male germ cell-associated kinase
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MPI
|
mannose phosphate isomerase
|
|
MRAP
|
melanocortin 2 receptor accessory protein
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEK2
|
NIMA-related kinase 2
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PITX2
|
paired-like homeodomain 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
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)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
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
|
|
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)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
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
|
|
SHH
|
sonic hedgehog
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOST
|
sclerostin
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STX16
|
syntaxin 16
|
|
TBX19
|
T-box 19
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP63
|
tumor protein p63
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF513
|
zinc finger protein 513
|
