| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ATXN7
|
ataxin 7
|
|
BCOR
|
BCL6 corepressor
|
|
BEST1
|
bestrophin 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BTD
|
biotinidase
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
CA2
|
carbonic anhydrase II
|
|
CDHR1
|
cadherin-related family member 1
|
|
CFH
|
complement factor H
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLRN1
|
clarin 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CTSD
|
cathepsin D
|
|
DCN
|
decorin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFT140
|
intraflagellar transport 140
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MYO7A
|
myosin VIIA
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NOTCH3
|
notch 3
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PITPNM3
|
PITPNM family member 3
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PROM1
|
prominin 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
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
|
|
RS1
|
retinoschisin 1
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SOST
|
sclerostin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFG
|
TRK-fused gene
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
VCAN
|
versican
|
|
ZNF469
|
zinc finger protein 469
|
