| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACKR3
|
atypical chemokine receptor 3
|
|
ADA
|
adenosine deaminase
|
|
ADRA1A
|
adrenoceptor alpha 1A
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
AGBL5
|
ATP/GTP binding protein-like 5
|
|
AHI1
|
Abelson helper integration site 1
|
|
AHR
|
aryl hydrocarbon receptor
|
|
ALB
|
albumin
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALPP
|
alkaline phosphatase, placental
|
|
ALX4
|
ALX homeobox 4
|
|
AMH
|
anti-Mullerian hormone
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AR
|
androgen receptor
|
|
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
|
|
ARSL
|
arylsulfatase L
|
|
ASRGL1
|
asparaginase like 1
|
|
ATRNL1
|
attractin-like 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
BEST1
|
bestrophin 1
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRD2
|
bromodomain containing 2
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BRS3
|
bombesin-like receptor 3
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CCL27
|
chemokine (C-C motif) ligand 27
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CGB
|
chorionic gonadotropin, beta polypeptide
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLRN1
|
clarin 1
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CRYM
|
crystallin, mu
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL4B
|
cullin 4B
|
|
CXCR6
|
chemokine (C-X-C motif) receptor 6
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHX38
|
DEAH (Asp-Glu-Ala-His) box polypeptide 38
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DMXL2
|
Dmx-like 2
|
|
DNM1L
|
dynamin 1-like
|
|
EDN1
|
endothelin 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EFNB1
|
ephrin-B1
|
|
EFNB3
|
ephrin-B3
|
|
EIF2S3
|
eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
|
|
ELANE
|
elastase, neutrophil expressed
|
|
EPHB6
|
EPH receptor B6
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESR1
|
estrogen receptor 1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
F10
|
coagulation factor X
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FSHB
|
follicle stimulating hormone, beta polypeptide
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GABRG3
|
gamma-aminobutyric acid (GABA) A receptor, gamma 3
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GK
|
glycerol kinase
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAS
|
GNAS complex locus
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GPR42
|
G protein-coupled receptor 42 (gene/pseudogene)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HDAC8
|
histone deacetylase 8
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HSD3B1
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
|
IDH3A
|
isocitrate dehydrogenase 3 (NAD+) alpha
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT74
|
intraflagellar transport 74
|
|
IFT88
|
intraflagellar transport 88
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INHA
|
inhibin, alpha
|
|
INHBB
|
inhibin, beta B
|
|
INPP5K
|
inositol polyphosphate-5-phosphatase K
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KIAA1549
|
KIAA1549
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
LAS1L
|
LAS1-like (S. cerevisiae)
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX3
|
LIM homeobox 3
|
|
LMNA
|
lamin A/C
|
|
LPAR2
|
lysophosphatidic acid receptor 2
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAD2L2
|
MAD2 mitotic arrest deficient-like 2 (yeast)
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAK
|
male germ cell-associated kinase
|
|
MC4R
|
melanocortin 4 receptor
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MRPS7
|
mitochondrial ribosomal protein S7
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NAT10
|
N-acetyltransferase 10 (GCN5-related)
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NECTIN1
|
nectin cell adhesion molecule 1
|
|
NEK2
|
NIMA-related kinase 2
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NHLH2
|
nescient helix loop helix 2
|
|
NMT2
|
N-myristoyltransferase 2
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NUCB2
|
nucleobindin 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTUD4
|
OTU deubiquitinase 4
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE5A
|
phosphodiesterase 5A, cGMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDLIM3
|
PDZ and LIM domain 3
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PNN
|
pinin, desmosome associated protein
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMC
|
proopiomelanocortin
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKG1
|
protein kinase, cGMP-dependent, type I
|
|
PRL
|
prolactin
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 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)
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAD51
|
RAD51 recombinase
|
|
RAD51C
|
RAD51 paralog C
|
|
RBM28
|
RNA binding motif protein 28
|
|
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
|
|
RFWD3
|
ring finger and WD repeat domain 3
|
|
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
|
|
S100A4
|
S100 calcium binding protein A4
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SCAPER
|
S-phase cyclin A-associated protein in the ER
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEA
|
S13 erythroblastosis (avian) oncogene homolog
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERPINA4
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
|
|
SETX
|
senataxin
|
|
SGPL1
|
sphingosine-1-phosphate lyase 1
|
|
SHBG
|
sex hormone-binding globulin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC20A1
|
solute carrier family 20 (phosphate transporter), member 1
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLPI
|
secretory leukocyte peptidase inhibitor
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRPX
|
sushi-repeat containing protein, X-linked
|
|
SSTR4
|
somatostatin receptor 4
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
TAC3
|
tachykinin 3
|
|
TACR3
|
tachykinin receptor 3
|
|
TBX3
|
T-box 3
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THEG
|
theg spermatid protein
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSPY1
|
testis specific protein, Y-linked 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBE2T
|
ubiquitin-conjugating enzyme E2T
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP7
|
ubiquitin specific peptidase 7 (herpes virus-associated)
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XRCC2
|
X-ray repair complementing defective repair in Chinese hamster cells 2
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZNF408
|
zinc finger protein 408
|
|
ZNF513
|
zinc finger protein 513
|
