Symbol |
Name |
AGTPBP1
|
ATP/GTP binding protein 1
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
ARL6
|
ADP-ribosylation factor-like 6
|
ASIC3
|
acid sensing (proton gated) ion channel 3
|
ATP1B2
|
ATPase, Na+/K+ transporting, beta 2 polypeptide
|
BBS1
|
Bardet-Biedl syndrome 1
|
BBS4
|
Bardet-Biedl syndrome 4
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
CCDC66
|
coiled-coil domain containing 66
|
CEP290
|
centrosomal protein 290kDa
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
CLCN3
|
chloride channel, voltage-sensitive 3
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
CRX
|
cone-rod homeobox
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
LAMB2
|
laminin, beta 2 (laminin S)
|
LCA5
|
Leber congenital amaurosis 5
|
LMO7
|
LIM domain 7
|
MITF
|
microphthalmia-associated transcription factor
|
OAT
|
ornithine aminotransferase
|
PANK2
|
pantothenate kinase 2
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
PFDN5
|
prefoldin subunit 5
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
RDH13
|
retinol dehydrogenase 13 (all-trans/9-cis)
|
RHO
|
rhodopsin
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
RS1
|
retinoschisin 1
|
STRA6
|
stimulated by retinoic acid 6
|
TTC8
|
tetratricopeptide repeat domain 8
|
TUB
|
tubby bipartite transcription factor
|
TULP1
|
tubby like protein 1
|
UCHL3
|
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|