| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABR
|
active BCR-related
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS3
|
ADAM metallopeptidase with thrombospondin type 1 motif, 3
|
|
AGBL5
|
ATP/GTP binding protein-like 5
|
|
AHI1
|
Abelson helper integration site 1
|
|
AHR
|
aryl hydrocarbon receptor
|
|
ALX1
|
ALX homeobox 1
|
|
ALX3
|
ALX homeobox 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
ARHGAP29
|
Rho GTPase activating protein 29
|
|
ARHGEF18
|
Rho/Rac guanine nucleotide exchange factor (GEF) 18
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC4
|
armadillo repeat containing 4
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASXL3
|
additional sex combs like transcriptional regulator 3
|
|
B3GLCT
|
beta 3-glucosyltransferase
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BEST1
|
bestrophin 1
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
C11ORF70
|
chromosome 11 open reading frame 70
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC103
|
coiled-coil domain containing 103
|
|
CCDC151
|
coiled-coil domain containing 151
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC65
|
coiled-coil domain containing 65
|
|
CCNO
|
cyclin O
|
|
CDCA7
|
cell division cycle associated 7
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDHR1
|
cadherin-related family member 1
|
|
CERKL
|
ceramide kinase-like
|
|
CFAP298
|
cilia and flagella associated protein 298
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNOT1
|
CCR4-NOT transcription complex, subunit 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREB3L1
|
cAMP responsive element binding protein 3-like 1
|
|
CRX
|
cone-rod homeobox
|
|
CTNND1
|
catenin (cadherin-associated protein), delta 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DHX38
|
DEAH (Asp-Glu-Ala-His) box polypeptide 38
|
|
DLG1
|
discs, large homolog 1 (Drosophila)
|
|
DLST
|
dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
|
|
DLX4
|
distal-less homeobox 4
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DNAAF1
|
dynein, axonemal, assembly factor 1
|
|
DNAAF2
|
dynein, axonemal, assembly factor 2
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAAF4
|
dynein axonemal assembly factor 4
|
|
DNAAF5
|
dynein, axonemal, assembly factor 5
|
|
DNAH1
|
dynein, axonemal, heavy chain 1
|
|
DNAH11
|
dynein, axonemal, heavy chain 11
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DNAJB13
|
DnaJ (Hsp40) homolog, subfamily B, member 13
|
|
DNAL1
|
dynein, axonemal, light chain 1
|
|
DRC1
|
dynein regulatory complex subunit 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
ELMO2
|
engulfment and cell motility 2
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ERF
|
Ets2 repressor factor
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM149B1
|
family with sequence similarity 149, member B1
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GAS2L2
|
growth arrest-specific 2 like 2
|
|
GAS8
|
growth arrest-specific 8
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDF5
|
growth differentiation factor 5
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GMDS
|
GDP-mannose 4,6-dehydratase
|
|
GMNN
|
geminin, DNA replication inhibitor
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GRHL3
|
grainyhead-like 3 (Drosophila)
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GSC
|
goosecoid homeobox
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIRA
|
histone cell cycle regulator
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYDIN
|
HYDIN, axonemal central pair apparatus protein
|
|
IDH3A
|
isocitrate dehydrogenase 3 (NAD+) alpha
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT88
|
intraflagellar transport 88
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
IRF6
|
interferon regulatory factor 6
|
|
JMJD1C
|
jumonji domain containing 1C
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0753
|
KIAA0753
|
|
KIAA1549
|
KIAA1549
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF7
|
kinesin family member 7
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LONP1
|
lon peptidase 1, mitochondrial
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRC56
|
leucine rich repeat containing 56
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
MAK
|
male germ cell-associated kinase
|
|
MAP3K7
|
mitogen-activated protein kinase kinase kinase 7
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MAX
|
MYC associated factor X
|
|
MCIDAS
|
multiciliate differentiation and DNA synthesis associated cell cycle protein
|
|
MDH2
|
malate dehydrogenase 2, NAD (mitochondrial)
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MSX1
|
msh homeobox 1
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NECTIN1
|
nectin cell adhesion molecule 1
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK2
|
NIMA-related kinase 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NME8
|
NME/NM23 family member 8
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NT5E
|
5'-nucleotidase, ecto (CD73)
|
|
ODAD1
|
outer dynein arm docking complex subunit 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTOGL
|
otogelin-like
|
|
PAX1
|
paired box 1
|
|
PCGF2
|
polycomb group ring finger 2
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIH1D3
|
PIH1 domain containing 3
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRDM5
|
PR domain containing 5
|
|
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)
|
|
PRRX1
|
paired related homeobox 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RAP1A
|
RAP1A, member of RAS oncogene family
|
|
RAP1B
|
RAP1B, member of RAS oncogene family
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP6
|
receptor accessory protein 6
|
|
RERE
|
arginine-glutamic acid dipeptide (RE) repeats
|
|
RET
|
ret proto-oncogene
|
|
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)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPS23
|
ribosomal protein S23
|
|
RREB1
|
ras responsive element binding protein 1
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RSPH3
|
radial spoke 3 homolog (Chlamydomonas)
|
|
RSPH4A
|
radial spoke head 4 homolog A (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCAPER
|
S-phase cyclin A-associated protein in the ER
|
|
SDC2
|
syndecan 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF2
|
succinate dehydrogenase complex assembly factor 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC24C
|
SEC24 family member C
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SETD2
|
SET domain containing 2
|
|
SETD5
|
SET domain containing 5
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SIX1
|
SIX homeobox 1
|
|
SIX2
|
SIX homeobox 2
|
|
SKI
|
SKI proto-oncogene
|
|
SLC25A11
|
solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11
|
|
SLC25A24
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPB
|
small nuclear ribonucleoprotein polypeptides B and B1
|
|
SOST
|
sclerostin
|
|
SPAG1
|
sperm associated antigen 1
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPECC1L
|
sperm antigen with calponin homology and coiled-coil domains 1-like
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STK36
|
serine/threonine kinase 36
|
|
TBX1
|
T-box 1
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN3
|
tectonic family member 3
|
|
TECTA
|
tectorin alpha
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TMEM127
|
transmembrane protein 127
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP63
|
tumor protein p63
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TSHZ1
|
teashirt zinc finger homeobox 1
|
|
TSR2
|
TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)
|
|
TTC25
|
tetratricopeptide repeat domain 25
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TXNL4A
|
thioredoxin-like 4A
|
|
UBB
|
ubiquitin B
|
|
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
|
ZNF408
|
zinc finger protein 408
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF513
|
zinc finger protein 513
|
