| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
BEST1
|
bestrophin 1
|
|
BTD
|
biotinidase
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CDH23
|
cadherin-related 23
|
|
CERKL
|
ceramide kinase-like
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLRN1
|
clarin 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CRX
|
cone-rod homeobox
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FXN
|
frataxin
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
JAK2
|
Janus kinase 2
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
MFN2
|
mitofusin 2
|
|
MLH1
|
mutL homolog 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-CYB
|
cytochrome b
|
|
MT-ND2
|
MTND2
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MYO7A
|
myosin VIIA
|
|
ND1
|
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PCDH15
|
protocadherin-related 15
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDZD7
|
PDZ domain containing 7
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
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)
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SOST
|
sclerostin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TCF12
|
transcription factor 12
|
|
THPO
|
thrombopoietin
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCAN
|
versican
|
