| Symbol |
Name |
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
APLP2
|
amyloid beta (A4) precursor-like protein 2
|
|
APOE
|
apolipoprotein E
|
|
ATF6
|
activating transcription factor 6
|
|
ATP6AP1
|
ATPase, H+ transporting, lysosomal accessory protein 1
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BCL11B
|
B-cell CLL/lymphoma 11B (zinc finger protein)
|
|
BEST1
|
bestrophin 1
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CCDC47
|
coiled-coil domain containing 47
|
|
CHAMP1
|
chromosome alignment maintaining phosphoprotein 1
|
|
CHD3
|
chromodomain helicase DNA binding protein 3
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CLDN16
|
claudin 16
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
DMBX1
|
diencephalon/mesencephalon homeobox 1
|
|
DNAJC21
|
DnaJ (Hsp40) homolog, subfamily C, member 21
|
|
DPF2
|
D4, zinc and double PHD fingers family 2
|
|
EED
|
embryonic ectoderm development
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EMC1
|
ER membrane protein complex subunit 1
|
|
EPRS1
|
glutamyl-prolyl-tRNA synthetase 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERMARD
|
ER membrane-associated RNA degradation
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FBXO11
|
F-box protein 11
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FKTN
|
fukutin
|
|
FLCN
|
folliculin
|
|
FOXL2
|
forkhead box L2
|
|
GATAD2B
|
GATA zinc finger domain containing 2B
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRID1
|
glutamate receptor, ionotropic, delta 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT52
|
intraflagellar transport 52
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KERA
|
keratocan
|
|
KIAA1109
|
KIAA1109
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KIF11
|
kinesin family member 11
|
|
LAMA2
|
laminin, alpha 2
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LMNA
|
lamin A/C
|
|
MAG
|
myelin associated glycoprotein
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MARK3
|
MAP/microtubule affinity-regulating kinase 3
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MFRP
|
membrane frizzled-related protein
|
|
MIPEP
|
mitochondrial intermediate peptidase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKRN3
|
makorin ring finger protein 3
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MYRF
|
myelin regulatory factor
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEK1
|
NIMA-related kinase 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOG
|
noggin
|
|
NPAP1
|
nuclear pore associated protein 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
P4HTM
|
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
|
|
PACS2
|
phosphofurin acidic cluster sorting protein 2
|
|
PCNT
|
pericentrin
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIGW
|
phosphatidylinositol glycan anchor biosynthesis, class W
|
|
PIGY
|
phosphatidylinositol glycan anchor biosynthesis, class Y
|
|
POGZ
|
pogo transposable element with ZNF domain
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PPM1D
|
protein phosphatase, Mg2+/Mn2+ dependent, 1D
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRSS56
|
protease, serine, 56
|
|
PTCH1
|
patched 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PURA
|
purine-rich element binding protein A
|
|
RAB11B
|
RAB11B, member RAS oncogene family
|
|
RAB8A
|
RAB8A, member RAS oncogene family
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RARA
|
retinoic acid receptor, alpha
|
|
RBFOX1
|
RNA binding protein, fox-1 homolog (C. elegans) 1
|
|
RPE
|
ribulose-5-phosphate-3-epimerase
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RS1
|
retinoschisin 1
|
|
SETD5
|
SET domain containing 5
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC25A24
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC39A8
|
solute carrier family 39 (zinc transporter), member 8
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMAD4
|
SMAD family member 4
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SON
|
SON DNA binding protein
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
TBC1D23
|
TBC1 domain family, member 23
|
|
TCTN2
|
tectonic family member 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TYR
|
tyrosinase
|
|
UNC80
|
unc-80 homolog (C. elegans)
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
WDR19
|
WD repeat domain 19
|
|
YME1L1
|
YME1-like 1 ATPase
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF148
|
zinc finger protein 148
|
