| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
APTX
|
aprataxin
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEST1
|
bestrophin 1
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CDHR1
|
cadherin-related family member 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CERKL
|
ceramide kinase-like
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHN1
|
chimerin 1
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX3
|
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GBA
|
glucosidase, beta, acid
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
KIF21A
|
kinesin family member 21A
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MAK
|
male germ cell-associated kinase
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTM1
|
myotubularin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
ND1
|
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NEK2
|
NIMA-related kinase 2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PLEC
|
plectin
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
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)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SEPN1
|
selenoprotein N, 1
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPEG
|
SPEG complex locus
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SURF1
|
surfeit 1
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TPM3
|
tropomyosin 3
|
|
TRNE
|
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TULP1
|
tubby like protein 1
|
|
TYMP
|
thymidine phosphorylase
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF513
|
zinc finger protein 513
|
