| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACTB
|
actin, beta
|
|
ADA
|
adenosine deaminase
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AQP4
|
aquaporin 4
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
CCDC102B
|
coiled-coil domain containing 102B
|
|
CD40LG
|
CD40 ligand
|
|
CDH23
|
cadherin-related 23
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP78
|
centrosomal protein 78kDa
|
|
CFH
|
complement factor H
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CKAP4
|
cytoskeleton-associated protein 4
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN19
|
claudin 19
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLRN1
|
clarin 1
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CRH
|
corticotropin releasing hormone
|
|
CRX
|
cone-rod homeobox
|
|
CRYAB
|
crystallin, alpha B
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
EFNA5
|
ephrin-A5
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
EMC1
|
ER membrane protein complex subunit 1
|
|
EPHA2
|
EPH receptor A2
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
F2R
|
coagulation factor II (thrombin) receptor
|
|
FOXG1
|
forkhead box G1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
H3F3A
|
H3 histone, family 3A
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
KARS1
|
lysyl-tRNA synthetase 1
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMC2
|
laminin, gamma 2
|
|
LMLN
|
leishmanolysin-like (metallopeptidase M8 family)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MARK2
|
MAP/microtubule affinity-regulating kinase 2
|
|
MARK3
|
MAP/microtubule affinity-regulating kinase 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEIS1
|
Meis homeobox 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MPDU1
|
mannose-P-dolichol utilization defect 1
|
|
MPEG1
|
macrophage expressed 1
|
|
MPP5
|
membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
|
|
MSMB
|
microseminoprotein, beta-
|
|
MST1
|
macrophage stimulating 1
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NR1I2
|
nuclear receptor subfamily 1, group I, member 2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NUCLEOLIN
|
nucleolin multifunctional protein
|
|
OAT
|
ornithine aminotransferase
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
PAX6
|
paired box 6
|
|
PBK
|
PDZ binding kinase
|
|
PCGF2
|
polycomb group ring finger 2
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHLDA2
|
pleckstrin homology-like domain, family A, member 2
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PITX3
|
paired-like homeodomain 3
|
|
PLXNA2
|
plexin A2
|
|
PMM2
|
phosphomannomutase 2
|
|
PPP5C
|
protein phosphatase 5, catalytic subunit
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRKCB
|
protein kinase C, beta
|
|
PROM1
|
prominin 1
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPH
|
peripherin
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPS27
|
ribosomal protein S27
|
|
RS1
|
retinoschisin 1
|
|
RSC1A1
|
regulatory solute carrier protein, family 1, member 1
|
|
SERPINF1
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC38A8
|
solute carrier family 38, member 8
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMUG1
|
single-strand-selective monofunctional uracil-DNA glycosylase 1
|
|
SPHK1
|
sphingosine kinase 1
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SYMPK
|
symplekin
|
|
SYN3
|
synapsin III
|
|
TAC1
|
tachykinin, precursor 1
|
|
TBP
|
TATA box binding protein
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFPI
|
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TMEM67
|
transmembrane protein 67
|
|
TMPRSS13
|
transmembrane protease, serine 13
|
|
TP63
|
tumor protein p63
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC3
|
trafficking protein particle complex 3
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TST
|
thiosulfate sulfurtransferase (rhodanese)
|
|
TTK
|
TTK protein kinase
|
|
TXNIP
|
thioredoxin interacting protein
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
UVRAG
|
UV radiation resistance associated
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
