| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACD
|
adrenocortical dysplasia homolog (mouse)
|
|
ACER1
|
alkaline ceramidase 1
|
|
ACTN4
|
actinin, alpha 4
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
ADAMTS20
|
ADAM metallopeptidase with thrombospondin type 1 motif, 20
|
|
AEBP2
|
AE binding protein 2
|
|
ALDH16A1
|
aldehyde dehydrogenase 16 family, member A1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
AP3D1
|
adaptor-related protein complex 3, delta 1 subunit
|
|
APOE
|
apolipoprotein E
|
|
ARCN1
|
archain 1
|
|
ARHGAP25
|
Rho GTPase activating protein 25
|
|
ARHGAP35
|
Rho GTPase activating protein 35
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASIP
|
agouti signaling protein
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATOX1
|
antioxidant 1 copper chaperone
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8A1
|
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRN
|
attractin
|
|
B4GALNT3
|
beta-1,4-N-acetyl-galactosaminyl transferase 3
|
|
BARX2
|
BARX homeobox 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BEST1
|
bestrophin 1
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BLOC1S4
|
biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
|
|
BLOC1S5
|
biogenesis of lysosomal organelles complex-1, subunit 5, muted
|
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
BMP7
|
bone morphogenetic protein 7
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BTD
|
biotinidase
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
CASP3
|
caspase 3, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CBX6
|
chromobox homolog 6
|
|
CCL13
|
chemokine (C-C motif) ligand 13
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERS1
|
ceramide synthase 1
|
|
CFAP36
|
cilia and flagella associated protein 36
|
|
CFH
|
complement factor H
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
CORIN
|
corin, serine peptidase
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRB2
|
crumbs family member 2
|
|
CRX
|
cone-rod homeobox
|
|
CSNK2A1
|
casein kinase 2, alpha 1 polypeptide
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUX1
|
cut-like homeobox 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCT
|
dopachrome tautomerase
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DPH1
|
diphthamide biosynthesis 1
|
|
DRD2
|
dopamine receptor D2
|
|
DSG4
|
desmoglein 4
|
|
DST
|
dystonin
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DUSP1
|
dual specificity phosphatase 1
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDARADD
|
EDAR-associated death domain
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EED
|
embryonic ectoderm development
|
|
EFEMP1
|
EGF containing fibulin-like extracellular matrix protein 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF3C
|
eukaryotic translation initiation factor 3, subunit C
|
|
ELOVL3
|
ELOVL fatty acid elongase 3
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EN1
|
engrailed homeobox 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERP44
|
endoplasmic reticulum protein 44
|
|
FAM134C
|
family with sequence similarity 134, member C
|
|
FAM151B
|
family with sequence similarity 151, member B
|
|
FAS
|
Fas cell surface death receptor
|
|
FAT1
|
FAT atypical cadherin 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXN1
|
forkhead box N1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
FZD4
|
frizzled class receptor 4
|
|
GAS1
|
growth arrest-specific 1
|
|
GATA3
|
GATA binding protein 3
|
|
GGT1
|
gamma-glutamyltransferase 1
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLMP
|
glycosylated lysosomal membrane protein
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GPC3
|
glypican 3
|
|
GPNMB
|
glycoprotein (transmembrane) nmb
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR161
|
G protein-coupled receptor 161
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
GSK3A
|
glycogen synthase kinase 3 alpha
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HELLS
|
helicase, lymphoid-specific
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS3
|
Hermansky-Pudlak syndrome 3
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HS2ST1
|
heparan sulfate 2-O-sulfotransferase 1
|
|
HTR2C
|
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL22RA1
|
interleukin 22 receptor, alpha 1
|
|
KDELR1
|
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
|
|
KDM4D
|
lysine (K)-specific demethylase 4D
|
|
KDM8
|
lysine (K)-specific demethylase 8
|
|
KIAA1549L
|
KIAA1549-like
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KITLG
|
KIT ligand
|
|
KRT1
|
keratin 1, type II
|
|
KRT17
|
keratin 17, type I
|
|
KRT2
|
keratin 2, type II
|
|
KRT4
|
keratin 4, type II
|
|
KRT9
|
keratin 9, type I
|
|
KXD1
|
KxDL motif containing 1
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEF1
|
lymphoid enhancer-binding factor 1
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LMO7
|
LIM domain 7
|
|
LMX1A
|
LIM homeobox transcription factor 1, alpha
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAB21L1
|
mab-21-like 1 (C. elegans)
|
|
MAB21L2
|
mab-21-like 2 (C. elegans)
|
|
MAGOH
|
mago-nashi homolog, proliferation-associated (Drosophila)
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MBTPS1
|
membrane-bound transcription factor peptidase, site 1
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MCM2
|
minichromosome maintenance complex component 2
|
|
MCOLN3
|
mucolipin 3
|
|
MDM1
|
Mdm1 nuclear protein homolog (mouse)
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MDM4
|
MDM4, p53 regulator
|
|
MED1
|
mediator complex subunit 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MGRN1
|
mahogunin ring finger 1, E3 ubiquitin protein ligase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKLN1
|
muskelin 1, intracellular mediator containing kelch motifs
|
|
MLANA
|
melan-A
|
|
MLPH
|
melanophilin
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZL3
|
myelin protein zero-like 3
|
|
MRPL10
|
mitochondrial ribosomal protein L10
|
|
MSX2
|
msh homeobox 2
|
|
MYO10
|
myosin X
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
MYSM1
|
Myb-like, SWIRM and MPN domains 1
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NCOA6
|
nuclear receptor coactivator 6
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NF1
|
neurofibromin 1
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NPHP4
|
nephronophthisis 4
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OAT
|
ornithine aminotransferase
|
|
OCA2
|
oculocutaneous albinism II
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PCBD1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
|
|
PDE3B
|
phosphodiesterase 3B, cGMP-inhibited
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFC
|
platelet derived growth factor C
|
|
PDPK1
|
3-phosphoinositide dependent protein kinase 1
|
|
PEPD
|
peptidase D
|
|
PER2
|
period circadian clock 2
|
|
PFAS
|
phosphoribosylformylglycinamidine synthase
|
|
PHACTR4
|
phosphatase and actin regulator 4
|
|
PIAS2
|
protein inhibitor of activated STAT, 2
|
|
PITX3
|
paired-like homeodomain 3
|
|
PKNOX1
|
PBX/knotted 1 homeobox 1
|
|
PLXNB2
|
plexin B2
|
|
PMEL
|
premelanosome protein
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POMC
|
proopiomelanocortin
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRIMPOL
|
primase and polymerase (DNA-directed)
|
|
PRKCZ
|
protein kinase C, zeta
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PTCH1
|
patched 1
|
|
PTPN6
|
protein tyrosine phosphatase, non-receptor type 6
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PXDN
|
peroxidasin
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB38
|
RAB38, member RAS oncogene family
|
|
RABGGTA
|
Rab geranylgeranyltransferase, alpha subunit
|
|
RAG1
|
recombination activating gene 1
|
|
RBP1
|
retinol binding protein 1, cellular
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFWD2
|
ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
|
|
RHO
|
rhodopsin
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPL24
|
ribosomal protein L24
|
|
RPL27A
|
ribosomal protein L27a
|
|
RPL38
|
ribosomal protein L38
|
|
RPS19
|
ribosomal protein S19
|
|
RPS20
|
ribosomal protein S20
|
|
RPS7
|
ribosomal protein S7
|
|
RS1
|
retinoschisin 1
|
|
RTBDN
|
retbindin
|
|
RUNDC1
|
RUN domain containing 1
|
|
RUVBL2
|
RuvB-like AAA ATPase 2
|
|
RXRA
|
retinoid X receptor, alpha
|
|
S1PR2
|
sphingosine-1-phosphate receptor 2
|
|
SEA
|
S13 erythroblastosis (avian) oncogene homolog
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SEMA3C
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SEMA4C
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPINF1
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
|
|
SETD4
|
SET domain containing 4
|
|
SETMAR
|
SET domain and mariner transposase fusion gene
|
|
SIRT1
|
sirtuin 1
|
|
SIRT7
|
sirtuin 7
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC30A4
|
solute carrier family 30 (zinc transporter), member 4
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SLC35F6
|
solute carrier family 35, member F6
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC7A11
|
solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
|
|
SLC9A8
|
solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNX5
|
sorting nexin 5
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPAG9
|
sperm associated antigen 9
|
|
SPNS2
|
spinster homolog 2 (Drosophila)
|
|
SPTA1
|
spectrin, alpha, erythrocytic 1
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TAL1
|
T-cell acute lymphocytic leukemia 1
|
|
TBC1D32
|
TBC1 domain family, member 32
|
|
TBX10
|
T-box 10
|
|
TBX15
|
T-box 15
|
|
TBX19
|
T-box 19
|
|
TCF4
|
transcription factor 4
|
|
TCF7L1
|
transcription factor 7-like 1 (T-cell specific, HMG-box)
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TLR4
|
toll-like receptor 4
|
|
TMC8
|
transmembrane channel-like 8
|
|
TMEM189
|
transmembrane protein 189
|
|
TMEM79
|
transmembrane protein 79
|
|
TP53
|
tumor protein p53
|
|
TRAF6
|
TNF receptor-associated factor 6, E3 ubiquitin protein ligase
|
|
TRAPPC6A
|
trafficking protein particle complex 6A
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC7A
|
tetratricopeptide repeat domain 7A
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
UQCRFS1
|
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
|
|
USF2
|
upstream transcription factor 2, c-fos interacting
|
|
USP4
|
ubiquitin specific peptidase 4 (proto-oncogene)
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS33A
|
vacuolar protein sorting 33 homolog A (S. cerevisiae)
|
|
VSX2
|
visual system homeobox 2
|
|
XXYLT1
|
xyloside xylosyltransferase 1
|
|
YDJC
|
YdjC homolog (bacterial)
|
|
ZDHHC21
|
zinc finger, DHHC-type containing 21
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZIC2
|
Zic family member 2
|
