| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENO2
|
enolase 2 (gamma, neuronal)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IQCB1
|
IQ motif containing B1
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYO7A
|
myosin VIIA
|
|
ND1
|
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFB11
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NEFH
|
neurofilament, heavy polypeptide
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NRL
|
neural retina leucine zipper
|
|
NUB1
|
negative regulator of ubiquitin-like proteins 1
|
|
NXNL1
|
nucleoredoxin-like 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PDC
|
phosducin
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TULP1
|
tubby like protein 1
|
|
UBD
|
ubiquitin D
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
