| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCD2
|
ATP-binding cassette, sub-family D (ALD), member 2
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AFF1
|
AF4/FMR2 family, member 1
|
|
AGA
|
aspartylglucosaminidase
|
|
AGTPBP1
|
ATP/GTP binding protein 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALG10
|
ALG10, alpha-1,2-glucosyltransferase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
APAF1
|
apoptotic peptidase activating factor 1
|
|
APOE
|
apolipoprotein E
|
|
AR
|
androgen receptor
|
|
ARCN1
|
archain 1
|
|
ARSA
|
arylsulfatase A
|
|
ASIC3
|
acid sensing (proton gated) ion channel 3
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATOH1
|
atonal homolog 1 (Drosophila)
|
|
ATP1B2
|
ATPase, Na+/K+ transporting, beta 2 polypeptide
|
|
ATP2B2
|
ATPase, Ca++ transporting, plasma membrane 2
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATXN7
|
ataxin 7
|
|
BARHL1
|
BarH-like homeobox 1
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA2D2
|
calcium channel, voltage-dependent, alpha 2/delta subunit 2
|
|
CASP3
|
caspase 3, apoptosis-related cysteine peptidase
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCDC66
|
coiled-coil domain containing 66
|
|
CCL13
|
chemokine (C-C motif) ligand 13
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CDH23
|
cadherin-related 23
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CELSR1
|
cadherin, EGF LAG seven-pass G-type receptor 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERS1
|
ceramide synthase 1
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHP1
|
calcineurin-like EF-hand protein 1
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLCN3
|
chloride channel, voltage-sensitive 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN11
|
claudin 11
|
|
CLDN14
|
claudin 14
|
|
CLDN9
|
claudin 9
|
|
CLIC5
|
chloride intracellular channel 5
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNTF
|
ciliary neurotrophic factor
|
|
COMMD3-BMI1
|
COMMD3-BMI1 readthrough
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CROCC
|
ciliary rootlet coiled-coil, rootletin
|
|
CRX
|
cone-rod homeobox
|
|
CTF1
|
cardiotrophin 1
|
|
CTSD
|
cathepsin D
|
|
DCTN1
|
dynactin 1
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DST
|
dystonin
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EDARADD
|
EDAR-associated death domain
|
|
EDNRB
|
endothelin receptor type B
|
|
EEF1A2
|
eukaryotic translation elongation factor 1 alpha 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EN1
|
engrailed homeobox 1
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESPN
|
espin
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FBXO2
|
F-box protein 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FZD4
|
frizzled class receptor 4
|
|
GABRA5
|
gamma-aminobutyric acid (GABA) A receptor, alpha 5
|
|
GABRB2
|
gamma-aminobutyric acid (GABA) A receptor, beta 2
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GATA3
|
GATA binding protein 3
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GIGYF2
|
GRB10 interacting GYF protein 2
|
|
GJA10
|
gap junction protein, alpha 10, 62kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNGT1
|
guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPHN
|
gephyrin
|
|
GPR37
|
G protein-coupled receptor 37 (endothelin receptor type B-like)
|
|
GPX1
|
glutathione peroxidase 1
|
|
GRIA2
|
glutamate receptor, ionotropic, AMPA 2
|
|
GRID1
|
glutamate receptor, ionotropic, delta 1
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRK1
|
G protein-coupled receptor kinase 1
|
|
GRXCR1
|
glutaredoxin, cysteine rich 1
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HERC1
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HPCA
|
hippocalcin
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HTT
|
huntingtin
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INPP4A
|
inositol polyphosphate-4-phosphatase, type I, 107kDa
|
|
IREB2
|
iron-responsive element binding protein 2
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KIF1A
|
kinesin family member 1A
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KL
|
klotho
|
|
LGR4
|
leucine-rich repeat containing G protein-coupled receptor 4
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LOC102723475
|
putative uncharacterized protein LOC388820
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LPCAT1
|
lysophosphatidylcholine acyltransferase 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRP8
|
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
LTN1
|
listerin E3 ubiquitin protein ligase 1
|
|
LYNX1
|
Ly6/neurotoxin 1
|
|
MAN2C1
|
mannosidase, alpha, class 2C, member 1
|
|
MARVELD2
|
MARVEL domain containing 2
|
|
MAVS
|
mitochondrial antiviral signaling protein
|
|
MCOLN3
|
mucolipin 3
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MIR96
|
microRNA 96
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MSRB3
|
methionine sulfoxide reductase B3
|
|
MYO3A
|
myosin IIIA
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NGFR
|
nerve growth factor receptor
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NPAS4
|
neuronal PAS domain protein 4
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP4
|
nephronophthisis 4
|
|
NTRK3
|
neurotrophic tyrosine kinase, receptor, type 3
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX8
|
paired box 8
|
|
PCDH15
|
protocadherin-related 15
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PFDN5
|
prefoldin subunit 5
|
|
PITPNA
|
phosphatidylinositol transfer protein, alpha
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POU4F2
|
POU class 4 homeobox 2
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRNP
|
prion protein
|
|
PROM1
|
prominin 1
|
|
PRSS56
|
protease, serine, 56
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PTPRQ
|
protein tyrosine phosphatase, receptor type, Q
|
|
QKI
|
QKI, KH domain containing, RNA binding
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RD3
|
retinal degeneration 3
|
|
RDX
|
radixin
|
|
RELN
|
reelin
|
|
RHO
|
rhodopsin
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RORA
|
RAR-related orphan receptor A
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
S1PR2
|
sphingosine-1-phosphate receptor 2
|
|
SBF2
|
SET binding factor 2
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCYL1
|
SCY1-like 1 (S. cerevisiae)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC12A7
|
solute carrier family 12 (potassium/chloride transporter), member 7
|
|
SLC18A2
|
solute carrier family 18 (vesicular monoamine transporter), member 2
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
|
SLC4A7
|
solute carrier family 4, sodium bicarbonate cotransporter, member 7
|
|
SLC6A6
|
solute carrier family 6 (neurotransmitter transporter), member 6
|
|
SLC9A1
|
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRRM4
|
serine/arginine repetitive matrix 4
|
|
STAMBP
|
STAM binding protein
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUN1
|
Sad1 and UNC84 domain containing 1
|
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
|
SYNJ2
|
synaptojanin 2
|
|
TBCE
|
tubulin folding cofactor E
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMIE
|
transmembrane inner ear
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRIM2
|
tripartite motif containing 2
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBB
|
ubiquitin B
|
|
UBE4B
|
ubiquitination factor E4B
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP14
|
ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VEGFB
|
vascular endothelial growth factor B
|
|
VIM
|
vimentin
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS54
|
vacuolar protein sorting 54 homolog (S. cerevisiae)
|
