| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ABO
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACKR3
|
atypical chemokine receptor 3
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTB
|
actin, beta
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADH7
|
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
|
|
ADIPOR1
|
adiponectin receptor 1
|
|
ADRA1A
|
adrenoceptor alpha 1A
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
AGBL5
|
ATP/GTP binding protein-like 5
|
|
AGTPBP1
|
ATP/GTP binding protein 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AHR
|
aryl hydrocarbon receptor
|
|
AHSA1
|
AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP2
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AIRE
|
autoimmune regulator
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALG12
|
ALG12, alpha-1,6-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMFR
|
autocrine motility factor receptor, E3 ubiquitin protein ligase
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APOPT1
|
apoptogenic 1, mitochondrial
|
|
AR
|
androgen receptor
|
|
ARC
|
activity-regulated cytoskeleton-associated protein
|
|
ARHGAP26
|
Rho GTPase activating protein 26
|
|
ARHGEF18
|
Rho/Rac guanine nucleotide exchange factor (GEF) 18
|
|
ARHGEF2
|
Rho/Rac guanine nucleotide exchange factor (GEF) 2
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL2
|
ADP-ribosylation factor-like 2
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ARPP21
|
cAMP-regulated phosphoprotein, 21kDa
|
|
ARR3
|
arrestin 3, retinal (X-arrestin)
|
|
ARRB2
|
arrestin, beta 2
|
|
ARSI
|
arylsulfatase family, member I
|
|
ATF6
|
activating transcription factor 6
|
|
ATN1
|
atrophin 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATXN2
|
ataxin 2
|
|
ATXN7
|
ataxin 7
|
|
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
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEST1
|
bestrophin 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAP
|
BRCA1 associated protein
|
|
BRS3
|
bombesin-like receptor 3
|
|
BSG
|
basigin (Ok blood group)
|
|
C1QBP
|
complement component 1, q subcomponent binding protein
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C21ORF2
|
chromosome 21 open reading frame 2
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C3
|
complement component 3
|
|
C5AR1
|
complement component 5a receptor 1
|
|
C5AR2
|
complement component 5a receptor 2
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CANX
|
calnexin
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC66
|
coiled-coil domain containing 66
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCN1
|
cellular communication network factor 1
|
|
CCZ1B
|
CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CD74
|
CD74 molecule, major histocompatibility complex, class II invariant chain
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CENPK
|
centromere protein K
|
|
CENPV
|
centromere protein V
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP78
|
centrosomal protein 78kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CFD
|
complement factor D (adipsin)
|
|
CFP
|
complement factor properdin
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLRN1
|
clarin 1
|
|
CLTA
|
clathrin, light chain A
|
|
CLU
|
clusterin
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNOT3
|
CCR4-NOT transcription complex, subunit 3
|
|
CNTF
|
ciliary neurotrophic factor
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COQ8B
|
coenzyme Q8B
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
COX8A
|
cytochrome c oxidase subunit VIIIA (ubiquitous)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRB2
|
crumbs family member 2
|
|
CRBN
|
cereblon
|
|
CRK
|
v-crk avian sarcoma virus CT10 oncogene homolog
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CROCC
|
ciliary rootlet coiled-coil, rootletin
|
|
CRX
|
cone-rod homeobox
|
|
CRYAB
|
crystallin, alpha B
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CWC27
|
CWC27 spliceosome-associated protein homolog (S. cerevisiae)
|
|
CX3CL1
|
chemokine (C-X3-C motif) ligand 1
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR6
|
chemokine (C-X-C motif) receptor 6
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYCS
|
cytochrome c, somatic
|
|
CYGB
|
cytoglobin
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DCUN1D1
|
DCN1, defective in cullin neddylation 1, domain containing 1
|
|
DCX
|
doublecortin
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHX16
|
DEAH (Asp-Glu-Ala-His) box polypeptide 16
|
|
DHX38
|
DEAH (Asp-Glu-Ala-His) box polypeptide 38
|
|
DMD
|
dystrophin
|
|
DNAJC17
|
DnaJ (Hsp40) homolog, subfamily C, member 17
|
|
DNER
|
delta/notch-like EGF repeat containing
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNLT3
|
dynein, light chain, Tctex-type 3
|
|
DYSF
|
dysferlin
|
|
E2F1
|
E2F transcription factor 1
|
|
ECHS1
|
enoyl CoA hydratase, short chain, 1, mitochondrial
|
|
EDN1
|
endothelin 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGF
|
epidermal growth factor
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
ELOVL6
|
ELOVL fatty acid elongase 6
|
|
EPO
|
erythropoietin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ERN1
|
endoplasmic reticulum to nucleus signaling 1
|
|
ETV5
|
ets variant 5
|
|
EXOSC2
|
exosome component 2
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FADS1
|
fatty acid desaturase 1
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM46A
|
family with sequence similarity 46, member A
|
|
FAM71A
|
family with sequence similarity 71, member A
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FASN
|
fatty acid synthase
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBN2
|
fibrillin 2
|
|
FGF18
|
fibroblast growth factor 18
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGF5
|
fibroblast growth factor 5
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKRP
|
fukutin related protein
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FN1
|
fibronectin 1
|
|
FOXI2
|
forkhead box I2
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRZB
|
frizzled-related protein
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTO
|
fat mass and obesity associated
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GDF2
|
growth differentiation factor 2
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GK
|
glycerol kinase
|
|
GLO1
|
glyoxalase I
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GPR42
|
G protein-coupled receptor 42 (gene/pseudogene)
|
|
GRAP2
|
GRB2-related adaptor protein 2
|
|
GRB10
|
growth factor receptor-bound protein 10
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRK1
|
G protein-coupled receptor kinase 1
|
|
GRK7
|
G protein-coupled receptor kinase 7
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRM5
|
glutamate receptor, metabotropic 5
|
|
GSN
|
gelsolin
|
|
GSS
|
glutathione synthetase
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC4
|
histone deacetylase 4
|
|
HEPH
|
hephaestin
|
|
HESX1
|
HESX homeobox 1
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HK1
|
hexokinase 1
|
|
HK2
|
hexokinase 2
|
|
HKDC1
|
hexokinase domain containing 1
|
|
HMOX1
|
heme oxygenase 1
|
|
HSD17B6
|
hydroxysteroid (17-beta) dehydrogenase 6
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDH3A
|
isocitrate dehydrogenase 3 (NAD+) alpha
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFNG
|
interferon, gamma
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT88
|
intraflagellar transport 88
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL10
|
interleukin 10
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL6
|
interleukin 6
|
|
IMPA1
|
inositol(myo)-1(or 4)-monophosphatase 1
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
ING1
|
inhibitor of growth family, member 1
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
IRX5
|
iroquois homeobox 5
|
|
ISG20
|
interferon stimulated exonuclease gene 20kDa
|
|
ITGA4
|
integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
|
|
JAG1
|
jagged 1
|
|
JAKMIP1
|
janus kinase and microtubule interacting protein 1
|
|
KIAA1549
|
KIAA1549
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KIF17
|
kinesin family member 17
|
|
KIF7
|
kinesin family member 7
|
|
KIZ
|
kizuna centrosomal protein
|
|
KL
|
klotho
|
|
KLF15
|
Kruppel-like factor 15
|
|
KLHL7
|
kelch-like family member 7
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KNTC1
|
kinetochore associated 1
|
|
KRTCAP3
|
keratinocyte associated protein 3
|
|
LAMP1
|
lysosomal-associated membrane protein 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LGSN
|
lengsin, lens protein with glutamine synthetase domain
|
|
LIN28B
|
lin-28 homolog B (C. elegans)
|
|
LIPT1
|
lipoyltransferase 1
|
|
LPAR2
|
lysophosphatidic acid receptor 2
|
|
LPCAT1
|
lysophosphatidylcholine acyltransferase 1
|
|
LPIN1
|
lipin 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LSM2
|
LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
|
|
LTB
|
lymphotoxin beta (TNF superfamily, member 3)
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAK
|
male germ cell-associated kinase
|
|
MAP1A
|
microtubule-associated protein 1A
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPK14
|
mitogen-activated protein kinase 14
|
|
MAPRE3
|
microtubule-associated protein, RP/EB family, member 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MDH1
|
malate dehydrogenase 1, NAD (soluble)
|
|
MEIS2
|
Meis homeobox 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
METTL9
|
methyltransferase like 9
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPP4
|
membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
|
|
MSR1
|
macrophage scavenger receptor 1
|
|
MSTO1
|
misato 1, mitochondrial distribution and morphology regulator
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-CYB
|
cytochrome b
|
|
MT-ND2
|
MTND2
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT2A
|
metallothionein 2A
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MVK
|
mevalonate kinase
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYO1D
|
myosin ID
|
|
MYO7A
|
myosin VIIA
|
|
NAALADL1
|
N-acetylated alpha-linked acidic dipeptidase-like 1
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NCAPG2
|
non-SMC condensin II complex, subunit G2
|
|
ND1
|
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA13
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA4
|
NDUFA4, mitochondrial complex associated
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFB11
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
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)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEK2
|
NIMA-related kinase 2
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NGB
|
neuroglobin
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NGLY1
|
N-glycanase 1
|
|
NIPAL1
|
NIPA-like domain containing 1
|
|
NOC2L
|
nucleolar complex associated 2 homolog (S. cerevisiae)
|
|
NPEPPS
|
aminopeptidase puromycin sensitive
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPTX2
|
neuronal pentraxin II
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRG4
|
neuregulin 4
|
|
NRL
|
neural retina leucine zipper
|
|
NSMCE3
|
NSE3 homolog, SMC5-SMC6 complex component
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
NXNL1
|
nucleoredoxin-like 1
|
|
NYX
|
nyctalopin
|
|
OAT
|
ornithine aminotransferase
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPN4
|
opsin 4
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX8
|
paired box 8
|
|
PCDH15
|
protocadherin-related 15
|
|
PDAP1
|
PDGFA associated protein 1
|
|
PDC
|
phosducin
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDZD7
|
PDZ domain containing 7
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PGF
|
placental growth factor
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHF3
|
PHD finger protein 3
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PHYHIP
|
phytanoyl-CoA 2-hydroxylase interacting protein
|
|
PIM1
|
Pim-1 proto-oncogene, serine/threonine kinase
|
|
PITPNM3
|
PITPNM family member 3
|
|
PKNOX1
|
PBX/knotted 1 homeobox 1
|
|
PLAG1
|
pleiomorphic adenoma gene 1
|
|
PLAT
|
plasminogen activator, tissue
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLEKHM1
|
pleckstrin homology domain containing, family M (with RUN domain) member 1
|
|
PLIN2
|
perilipin 2
|
|
PLLP
|
plasmolipin
|
|
PLXNA2
|
plexin A2
|
|
PMM2
|
phosphomannomutase 2
|
|
PMPCA
|
peptidase (mitochondrial processing) alpha
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC5
|
POC5 centriolar protein
|
|
POLDIP2
|
polymerase (DNA-directed), delta interacting protein 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PPIH
|
peptidylprolyl isomerase H (cyclophilin H)
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDX1
|
peroxiredoxin 1
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PROM1
|
prominin 1
|
|
PROS1
|
protein S (alpha)
|
|
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
|
|
PRPH
|
peripherin
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRTFDC1
|
phosphoribosyl transferase domain containing 1
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
RAB8A
|
RAB8A, member RAS oncogene family
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RASGRF1
|
Ras protein-specific guanine nucleotide-releasing factor 1
|
|
RBP1
|
retinol binding protein 1, cellular
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
RCBTB1
|
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
|
|
RCC1
|
regulator of chromosome condensation 1
|
|
RCC1L
|
RCC1 like
|
|
RCVRN
|
recoverin
|
|
RD3
|
retinal degeneration 3
|
|
RDH11
|
retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
REEP6
|
receptor accessory protein 6
|
|
REG3A
|
regenerating islet-derived 3 alpha
|
|
RET
|
ret proto-oncogene
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RNASEH1
|
ribonuclease H1
|
|
RNF19A
|
ring finger protein 19A, RBR E3 ubiquitin protein ligase
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE
|
ribulose-5-phosphate-3-epimerase
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPS6
|
ribosomal protein S6
|
|
RPS6KB1
|
ribosomal protein S6 kinase, 70kDa, polypeptide 1
|
|
RRH
|
retinal pigment epithelium-derived rhodopsin homolog
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
S100A6
|
S100 calcium binding protein A6
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SAMD11
|
sterile alpha motif domain containing 11
|
|
SAMD7
|
sterile alpha motif domain containing 7
|
|
SCAPER
|
S-phase cyclin A-associated protein in the ER
|
|
SCGB1D4
|
secretoglobin, family 1D, member 4
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SCO1
|
SCO1 cytochrome c oxidase assembly protein
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC14L1
|
SEC14-like 1 (S. cerevisiae)
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERPINF1
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
|
|
SETD2
|
SET domain containing 2
|
|
SFRP2
|
secreted frizzled-related protein 2
|
|
SFRP5
|
secreted frizzled-related protein 5
|
|
SFTPD
|
surfactant protein D
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH3BP4
|
SH3-domain binding protein 4
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SIRT1
|
sirtuin 1
|
|
SLC19A1
|
solute carrier family 19 (folate transporter), member 1
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC24A1
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A4RG
|
SLC2A4 regulator
|
|
SLC37A3
|
solute carrier family 37, member 3
|
|
SLC6A6
|
solute carrier family 6 (neurotransmitter transporter), member 6
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLU7
|
SLU7 splicing factor homolog (S. cerevisiae)
|
|
SMAD4
|
SMAD family member 4
|
|
SMAP1
|
small ArfGAP 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPB
|
small nuclear ribonucleoprotein polypeptides B and B1
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD3
|
superoxide dismutase 3, extracellular
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SSTR4
|
somatostatin receptor 4
|
|
ST8SIA4
|
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
|
|
STATH
|
statherin
|
|
STC1
|
stanniocalcin 1
|
|
SURF1
|
surfeit 1
|
|
SYNJ1
|
synaptojanin 1
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TBX20
|
T-box 20
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THBS2
|
thrombospondin 2
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TMED3
|
transmembrane emp24 protein transport domain containing 3
|
|
TMEM14B
|
transmembrane protein 14B
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TNF
|
tumor necrosis factor
|
|
TNFSF15
|
tumor necrosis factor (ligand) superfamily, member 15
|
|
TNMD
|
tenomodulin
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRNT1
|
tRNA nucleotidyl transferase, CCA-adding, 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSPAN7
|
tetraspanin 7
|
|
TST
|
thiosulfate sulfurtransferase (rhodanese)
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTLL5
|
tubulin tyrosine ligase-like family member 5
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
TULP2
|
tubby like protein 2
|
|
TUT1
|
terminal uridylyl transferase 1, U6 snRNA-specific
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TWNK
|
twinkle mtDNA helicase
|
|
UBAP1L
|
ubiquitin associated protein 1-like
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP11
|
ubiquitin specific peptidase 11
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VCP
|
valosin containing protein
|
|
VSX2
|
visual system homeobox 2
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR17
|
WD repeat domain 17
|
|
WDR19
|
WD repeat domain 19
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZDHHC24
|
zinc finger, DHHC-type containing 24
|
|
ZFP36
|
ZFP36 ring finger protein
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF132
|
zinc finger protein 132
|
|
ZNF408
|
zinc finger protein 408
|
|
ZNF513
|
zinc finger protein 513
|
