| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
APC
|
adenomatous polyposis coli
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BEST1
|
bestrophin 1
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CDHR1
|
cadherin-related family member 1
|
|
CERKL
|
ceramide kinase-like
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRX
|
cone-rod homeobox
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DST
|
dystonin
|
|
ECM1
|
extracellular matrix protein 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FERMT1
|
fermitin family member 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HFE
|
hemochromatosis
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LEMD3
|
LEM domain containing 3
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MAK
|
male germ cell-associated kinase
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MMP1
|
matrix metallopeptidase 1
|
|
NCSTN
|
nicastrin
|
|
NEK2
|
NIMA-related kinase 2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PLEC
|
plectin
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM5
|
PR domain containing 5
|
|
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)
|
|
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)
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TNXB
|
tenascin XB
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF513
|
zinc finger protein 513
|
