| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
APOB
|
apolipoprotein B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATXN2
|
ataxin 2
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
CA4
|
carbonic anhydrase IV
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDH23
|
cadherin-related 23
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CTSD
|
cathepsin D
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT27
|
intraflagellar transport 27
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IQCB1
|
IQ motif containing B1
|
|
KLHL7
|
kelch-like family member 7
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MVK
|
mevalonate kinase
|
|
MYO7A
|
myosin VIIA
|
|
NEK2
|
NIMA-related kinase 2
|
|
NPHP4
|
nephronophthisis 4
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PCDH15
|
protocadherin-related 15
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDZD7
|
PDZ domain containing 7
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PMM2
|
phosphomannomutase 2
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
RHO
|
rhodopsin
|
|
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)
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TULP1
|
tubby like protein 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
