Symbol |
Name |
AARS
|
alanyl-tRNA synthetase
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
ABHD12
|
abhydrolase domain containing 12
|
ABHD5
|
abhydrolase domain containing 5
|
ACO2
|
aconitase 2, mitochondrial
|
ACTB
|
actin, beta
|
ACTG1
|
actin gamma 1
|
ADAM10
|
ADAM metallopeptidase domain 10
|
ADAM9
|
ADAM metallopeptidase domain 9
|
ADCK3
|
aarF domain containing kinase 3
|
ADCY1
|
adenylate cyclase 1 (brain)
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
ADSL
|
adenylosuccinate lyase
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
AGK
|
acylglycerol kinase
|
AGPS
|
alkylglycerone phosphate synthase
|
AGRN
|
agrin
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
ALMS1
|
Alstrom syndrome protein 1
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
AMPD2
|
adenosine monophosphate deaminase 2
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
ANO10
|
anoctamin 10
|
ANO3
|
anoctamin 3
|
ANO5
|
anoctamin 5
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
APLP1
|
amyloid beta (A4) precursor-like protein 1
|
APOA1
|
apolipoprotein A-I
|
APOE
|
apolipoprotein E
|
APP
|
amyloid beta (A4) precursor protein
|
APTX
|
aprataxin
|
AR
|
androgen receptor
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
ARL6
|
ADP-ribosylation factor-like 6
|
ARL6IP1
|
ADP-ribosylation factor-like 6 interacting protein 1
|
ARSA
|
arylsulfatase A
|
ARSB
|
arylsulfatase B
|
ARX
|
aristaless related homeobox
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
ASB10
|
ankyrin repeat and SOCS box containing 10
|
ASPA
|
aspartoacylase
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
ATF1
|
activating transcription factor 1
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
ATL1
|
atlastin GTPase 1
|
ATL3
|
atlastin GTPase 3
|
ATM
|
ATM serine/threonine kinase
|
ATN1
|
atrophin 1
|
ATP13A2
|
ATPase type 13A2
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
ATP2B2
|
ATPase, Ca++ transporting, plasma membrane 2
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
ATXN1
|
ataxin 1
|
ATXN10
|
ataxin 10
|
ATXN2
|
ataxin 2
|
ATXN3
|
ataxin 3
|
ATXN7
|
ataxin 7
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
B3GNT1
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
BCAP31
|
B-cell receptor-associated protein 31
|
BCOR
|
BCL6 corepressor
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
BEST1
|
bestrophin 1
|
BFSP1
|
beaded filament structural protein 1, filensin
|
BFSP2
|
beaded filament structural protein 2, phakinin
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
BMP4
|
bone morphogenetic protein 4
|
BRAT1
|
BRCA1-associated ATM activator 1
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
BTBD9
|
BTB (POZ) domain containing 9
|
C10ORF2
|
chromosome 10 open reading frame 2
|
C12ORF65
|
chromosome 12 open reading frame 65
|
C19ORF12
|
chromosome 19 open reading frame 12
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
C2
|
complement component 2
|
C2ORF71
|
chromosome 2 open reading frame 71
|
C3
|
complement component 3
|
C8ORF37
|
chromosome 8 open reading frame 37
|
C9
|
complement component 9
|
C9ORF72
|
chromosome 9 open reading frame 72
|
CA4
|
carbonic anhydrase IV
|
CABP2
|
calcium binding protein 2
|
CABP4
|
calcium binding protein 4
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
CAPN3
|
calpain 3, (p94)
|
CASR
|
calcium-sensing receptor
|
CAV3
|
caveolin 3
|
CCDC50
|
coiled-coil domain containing 50
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
CDH23
|
cadherin-related 23
|
CDHR1
|
cadherin-related family member 1
|
CDK5
|
cyclin-dependent kinase 5
|
CDKL5
|
cyclin-dependent kinase-like 5
|
CEACAM16
|
carcinoembryonic antigen-related cell adhesion molecule 16
|
CEP290
|
centrosomal protein 290kDa
|
CERKL
|
ceramide kinase-like
|
CETP
|
cholesteryl ester transfer protein, plasma
|
CFB
|
complement factor B
|
CFH
|
complement factor H
|
CFHR2
|
complement factor H-related 2
|
CFHR4
|
complement factor H-related 4
|
CFHR5
|
complement factor H-related 5
|
CFI
|
complement factor I
|
CHAT
|
choline O-acetyltransferase
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
CHM
|
choroideremia (Rab escort protein 1)
|
CHMP2B
|
charged multivesicular body protein 2B
|
CHMP4B
|
charged multivesicular body protein 4B
|
CHN1
|
chimerin 1
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
CHRNA2
|
cholinergic receptor, nicotinic, alpha 2 (neuronal)
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
CHRNB2
|
cholinergic receptor, nicotinic, beta 2 (neuronal)
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
CIB2
|
calcium and integrin binding family member 2
|
CIZ1
|
CDKN1A interacting zinc finger protein 1
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
CLDN14
|
claudin 14
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
CLRN1
|
clarin 1
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
CNTN2
|
contactin 2 (axonal)
|
CNTNAP2
|
contactin associated protein-like 2
|
COASY
|
CoA synthase
|
COCH
|
cochlin
|
COL11A1
|
collagen, type XI, alpha 1
|
COL11A2
|
collagen, type XI, alpha 2
|
COL11A2P1
|
collagen, type XI, alpha 2 pseudogene 1
|
COL2A1
|
collagen, type II, alpha 1
|
COL4A6
|
collagen, type IV, alpha 6
|
COL6A1
|
collagen, type VI, alpha 1
|
COL6A2
|
collagen, type VI, alpha 2
|
COL6A3
|
collagen, type VI, alpha 3
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
CPA6
|
carboxypeptidase A6
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
CRX
|
cone-rod homeobox
|
CRYAA
|
crystallin, alpha A
|
CRYAB
|
crystallin, alpha B
|
CRYBA1
|
crystallin, beta A1
|
CRYBA2
|
crystallin, beta A2
|
CRYBA4
|
crystallin, beta A4
|
CRYBB1
|
crystallin, beta B1
|
CRYBB2
|
crystallin, beta B2
|
CRYBB3
|
crystallin, beta B3
|
CRYGB
|
crystallin, gamma B
|
CRYGC
|
crystallin, gamma C
|
CRYGD
|
crystallin, gamma D
|
CRYGS
|
crystallin, gamma S
|
CST3
|
cystatin C
|
CSTB
|
cystatin B (stefin B)
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
CTSD
|
cathepsin D
|
CTSF
|
cathepsin F
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
DAGLA
|
diacylglycerol lipase, alpha
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
DCTN1
|
dynactin 1
|
DCX
|
doublecortin
|
DDHD1
|
DDHD domain containing 1
|
DDHD2
|
DDHD domain containing 2
|
DEPDC5
|
DEP domain containing 5
|
DES
|
desmin
|
DFNA5
|
deafness, autosomal dominant 5
|
DFNB31
|
deafness, autosomal recessive 31
|
DFNB59
|
deafness, autosomal recessive 59
|
DGUOK
|
deoxyguanosine kinase
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
DIABLO
|
diablo, IAP-binding mitochondrial protein
|
DIAPH1
|
diaphanous-related formin 1
|
DIAPH3
|
diaphanous-related formin 3
|
DMPK
|
dystrophia myotonica-protein kinase
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
DNM2
|
dynamin 2
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
DOCK7
|
dedicator of cytokinesis 7
|
DOK7
|
docking protein 7
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
DPM3
|
dolichyl-phosphate mannosyltransferase polypeptide 3
|
DPP6
|
dipeptidyl-peptidase 6
|
DRD2
|
dopamine receptor D2
|
DRD5
|
dopamine receptor D5
|
DST
|
dystonin
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
DYSF
|
dysferlin
|
EBP
|
emopamil binding protein (sterol isomerase)
|
EEF2
|
eukaryotic translation elongation factor 2
|
EFHC1
|
EF-hand domain (C-terminal) containing 1
|
EGR2
|
early growth response 2
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
EIF4G1
|
eukaryotic translation initiation factor 4 gamma, 1
|
ELMOD3
|
ELMO/CED-12 domain containing 3
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
EMD
|
emerin
|
EML1
|
echinoderm microtubule associated protein like 1
|
ENTPD1
|
ectonucleoside triphosphate diphosphohydrolase 1
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
EPHA2
|
EPH receptor A2
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
ERCC1
|
excision repair cross-complementation group 1
|
ERCC2
|
excision repair cross-complementation group 2
|
ERCC6
|
excision repair cross-complementation group 6
|
ERLIN2
|
ER lipid raft associated 2
|
ESPN
|
espin
|
ESRRB
|
estrogen-related receptor beta
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
EYS
|
eyes shut homolog (Drosophila)
|
F13B
|
coagulation factor XIII, B polypeptide
|
FA2H
|
fatty acid 2-hydroxylase
|
FAM126A
|
family with sequence similarity 126, member A
|
FAM134B
|
family with sequence similarity 134, member B
|
FAM161A
|
family with sequence similarity 161, member A
|
FBLN5
|
fibulin 5
|
FBXO38
|
F-box protein 38
|
FBXO7
|
F-box protein 7
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
FGF14
|
fibroblast growth factor 14
|
FGGY
|
FGGY carbohydrate kinase domain containing
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
FKRP
|
fukutin related protein
|
FKTN
|
fukutin
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
FMR1
|
fragile X mental retardation 1
|
FOLR1
|
folate receptor 1 (adult)
|
FOXC1
|
forkhead box C1
|
FOXE3
|
forkhead box E3
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
FTL
|
ferritin, light polypeptide
|
FUS
|
FUS RNA binding protein
|
FXN
|
frataxin
|
FYCO1
|
FYVE and coiled-coil domain containing 1
|
FZD4
|
frizzled class receptor 4
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
GALC
|
galactosylceramidase
|
GALK1
|
galactokinase 1
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
GAN
|
gigaxonin
|
GARS
|
glycyl-tRNA synthetase
|
GBA
|
glucosidase, beta, acid
|
GBA2
|
glucosidase, beta (bile acid) 2
|
GCH1
|
GTP cyclohydrolase 1
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
GDF3
|
growth differentiation factor 3
|
GDF6
|
growth differentiation factor 6
|
GFAP
|
glial fibrillary acidic protein
|
GFER
|
growth factor, augmenter of liver regeneration
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
GIGYF2
|
GRB10 interacting GYF protein 2
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
GLB1
|
galactosidase, beta 1
|
GM2A
|
GM2 ganglioside activator
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
GNAL
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
GOSR2
|
golgi SNAP receptor complex member 2
|
GPR143
|
G protein-coupled receptor 143
|
GPR179
|
G protein-coupled receptor 179
|
GRHL2
|
grainyhead-like 2 (Drosophila)
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
GRK1
|
G protein-coupled receptor kinase 1
|
GRM1
|
glutamate receptor, metabotropic 1
|
GRM6
|
glutamate receptor, metabotropic 6
|
GRN
|
granulin
|
GRXCR1
|
glutaredoxin, cysteine rich 1
|
GRXCR2
|
glutaredoxin, cysteine rich 2
|
GSK3A
|
glycogen synthase kinase 3 alpha
|
GSK3B
|
glycogen synthase kinase 3 beta
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
HARS
|
histidyl-tRNA synthetase
|
HCCS
|
holocytochrome c synthase
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
HINT1
|
histidine triad nucleotide binding protein 1
|
HIP1
|
huntingtin interacting protein 1
|
HIST1H2AG
|
histone cluster 1, H2ag
|
HK1
|
hexokinase 1
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
HMCN1
|
hemicentin 1
|
HMGB3
|
high mobility group box 3
|
HMX1
|
H6 family homeobox 1
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
HSF4
|
heat shock transcription factor 4
|
HSPB1
|
heat shock 27kDa protein 1
|
HSPB3
|
heat shock 27kDa protein 3
|
HSPB8
|
heat shock 22kDa protein 8
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
HTRA1
|
HtrA serine peptidase 1
|
HTRA2
|
HtrA serine peptidase 2
|
HTT
|
huntingtin
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
IL2RA
|
interleukin 2 receptor, alpha
|
IL7R
|
interleukin 7 receptor
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
ISPD
|
isoprenoid synthase domain containing
|
ITGA7
|
integrin, alpha 7
|
ITM2B
|
integral membrane protein 2B
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
KARS
|
lysyl-tRNA synthetase
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
KIAA0196
|
KIAA0196
|
KIAA0226
|
KIAA0226
|
KIF1A
|
kinesin family member 1A
|
KIF1B
|
kinesin family member 1B
|
KIF1C
|
kinesin family member 1C
|
KIF5A
|
kinesin family member 5A
|
KLHL7
|
kelch-like family member 7
|
L1CAM
|
L1 cell adhesion molecule
|
LAMA2
|
laminin, alpha 2
|
LARGE
|
like-glycosyltransferase
|
LCA5
|
Leber congenital amaurosis 5
|
LGI1
|
leucine-rich, glioma inactivated 1
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
LIPC
|
lipase, hepatic
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
LMNA
|
lamin A/C
|
LMNB1
|
lamin B1
|
LOXHD1
|
lipoxygenase homology domains 1
|
LOXL1
|
lysyl oxidase-like 1
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
LRIT3
|
leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
LRRK2
|
leucine-rich repeat kinase 2
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
MAK
|
male germ cell-associated kinase
|
MAP2
|
microtubule-associated protein 2
|
MAP2K5
|
mitogen-activated protein kinase kinase 5
|
MAPK10
|
mitogen-activated protein kinase 10
|
MAPT
|
microtubule-associated protein tau
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
MARVELD2
|
MARVEL domain containing 2
|
MATR3
|
matrin 3
|
MED25
|
mediator complex subunit 25
|
MEF2C
|
myocyte enhancer factor 2C
|
MEIS1
|
Meis homeobox 1
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
MFN2
|
mitofusin 2
|
MFRP
|
membrane frizzled-related protein
|
MFSD8
|
major facilitator superfamily domain containing 8
|
MIP
|
major intrinsic protein of lens fiber
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
MPZ
|
myelin protein zero
|
MSRB3
|
methionine sulfoxide reductase B3
|
MTMR2
|
myotubularin related protein 2
|
MTPAP
|
mitochondrial poly(A) polymerase
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
MVK
|
mevalonate kinase
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
MYO15A
|
myosin XVA
|
MYO1A
|
myosin IA
|
MYO3A
|
myosin IIIA
|
MYO6
|
myosin VI
|
MYO7A
|
myosin VIIA
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
MYOT
|
myotilin
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
NALCN
|
sodium leak channel, non selective
|
NDP
|
Norrie disease (pseudoglioma)
|
NDRG1
|
N-myc downstream regulated 1
|
NECAP1
|
NECAP endocytosis associated 1
|
NEFH
|
neurofilament, heavy polypeptide
|
NEFL
|
neurofilament, light polypeptide
|
NEK2
|
NIMA-related kinase 2
|
NGF
|
nerve growth factor (beta polypeptide)
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
NOP56
|
NOP56 ribonucleoprotein
|
NOTCH3
|
notch 3
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
NRL
|
neural retina leucine zipper
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
NTF4
|
neurotrophin 4
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
NYX
|
nyctalopin
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
OPTN
|
optineurin
|
OTOA
|
otoancorin
|
OTOF
|
otoferlin
|
OTOG
|
otogelin
|
OTOGL
|
otogelin-like
|
OTX2
|
orthodenticle homeobox 2
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
PANK2
|
pantothenate kinase 2
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
PARK7
|
parkinson protein 7
|
PAX6
|
paired box 6
|
PCDH15
|
protocadherin-related 15
|
PCDH19
|
protocadherin 19
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
PDYN
|
prodynorphin
|
PDZD7
|
PDZ domain containing 7
|
PEX7
|
peroxisomal biogenesis factor 7
|
PFN1
|
profilin 1
|
PHF6
|
PHD finger protein 6
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
PINK1
|
PTEN induced putative kinase 1
|
PITPNM3
|
PITPNM family member 3
|
PITX2
|
paired-like homeodomain 2
|
PITX3
|
paired-like homeodomain 3
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
PLD3
|
phospholipase D family, member 3
|
PLEC
|
plectin
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
PLP1
|
proteolipid protein 1
|
PMP22
|
peripheral myelin protein 22
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
POLG
|
polymerase (DNA directed), gamma
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
POMK
|
protein-O-mannose kinase
|
POMT1
|
protein-O-mannosyltransferase 1
|
POMT2
|
protein-O-mannosyltransferase 2
|
POU3F4
|
POU class 3 homeobox 4
|
POU4F3
|
POU class 4 homeobox 3
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
PPP5C
|
protein phosphatase 5, catalytic subunit
|
PPT1
|
palmitoyl-protein thioesterase 1
|
PRCD
|
progressive rod-cone degeneration
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
PRKCG
|
protein kinase C, gamma
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
PRNP
|
prion protein
|
PROM1
|
prominin 1
|
PRPF3
|
pre-mRNA processing factor 3
|
PRPF31
|
pre-mRNA processing factor 31
|
PRPF6
|
pre-mRNA processing factor 6
|
PRPF8
|
pre-mRNA processing factor 8
|
PRPH
|
peripherin
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
PRRT2
|
proline-rich transmembrane protein 2
|
PRX
|
periaxin
|
PSAP
|
prosaposin
|
PSEN1
|
presenilin 1
|
PSEN2
|
presenilin 2
|
PTPRD
|
protein tyrosine phosphatase, receptor type, D
|
PTPRQ
|
protein tyrosine phosphatase, receptor type, Q
|
QARS
|
glutaminyl-tRNA synthetase
|
RAB28
|
RAB28, member RAS oncogene family
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
RAB7A
|
RAB7A, member RAS oncogene family
|
RALGPS2
|
Ral GEF with PH domain and SH3 binding motif 2
|
RAPSN
|
receptor-associated protein of the synapse
|
RARB
|
retinoic acid receptor, beta
|
RAX
|
retina and anterior neural fold homeobox
|
RAX2
|
retina and anterior neural fold homeobox 2
|
RB1
|
retinoblastoma 1
|
RBP3
|
retinol binding protein 3, interstitial
|
RD3
|
retinal degeneration 3
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
RDX
|
radixin
|
RECQL4
|
RecQ protein-like 4
|
REEP1
|
receptor accessory protein 1
|
REEP2
|
receptor accessory protein 2
|
RGR
|
retinal G protein coupled receptor
|
RHO
|
rhodopsin
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
RLBP1
|
retinaldehyde binding protein 1
|
ROGDI
|
rogdi homolog (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
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
RTN2
|
reticulon 2
|
SACS
|
sacsin molecular chaperone
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
SBF1
|
SET binding factor 1
|
SBF2
|
SET binding factor 2
|
SCARB2
|
scavenger receptor class B, member 2
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
SEPT9
|
septin 9
|
SERPINB6
|
serpin peptidase inhibitor, clade B (ovalbumin), member 6
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
SETX
|
senataxin
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
SGCE
|
sarcoglycan, epsilon
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
SHH
|
sonic hedgehog
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
SIRT2
|
sirtuin 2
|
SIX1
|
SIX homeobox 1
|
SIX6
|
SIX homeobox 6
|
SKOR1
|
SKI family transcriptional corepressor 1
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
SLC16A12
|
solute carrier family 16, member 12
|
SLC17A8
|
solute carrier family 17 (vesicular glutamate transporter), member 8
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
SLC24A1
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
SLC7A14
|
solute carrier family 7, member 14
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
SMN1
|
survival of motor neuron 1, telomeric
|
SMN2
|
survival of motor neuron 2, centromeric
|
SMOC1
|
SPARC related modular calcium binding 1
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
SMPX
|
small muscle protein, X-linked
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
SNCAIP
|
synuclein, alpha interacting protein
|
SNIP1
|
Smad nuclear interacting protein 1
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
SNX3
|
sorting nexin 3
|
SOD1
|
superoxide dismutase 1, soluble
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
SOX2
|
SRY (sex determining region Y)-box 2
|
SPAST
|
spastin
|
SPATA7
|
spermatogenesis associated 7
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
STRA6
|
stimulated by retinoic acid 6
|
STRC
|
stereocilin
|
STRCP1
|
stereocilin pseudogene 1
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
STXBP1
|
syntaxin binding protein 1
|
SUMF1
|
sulfatase modifying factor 1
|
SYN1
|
synapsin I
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
SYNJ1
|
synaptojanin 1
|
SYT14
|
synaptotagmin XIV
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
TARDBP
|
TAR DNA binding protein
|
TBC1D24
|
TBC1 domain family, member 24
|
TBK1
|
TANK-binding kinase 1
|
TBP
|
TATA box binding protein
|
TCAP
|
titin-cap
|
TCF4
|
transcription factor 4
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
TDRD7
|
tudor domain containing 7
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
TECTA
|
tectorin alpha
|
TFG
|
TRK-fused gene
|
TGM6
|
transglutaminase 6
|
TH
|
tyrosine hydroxylase
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
TLR4
|
toll-like receptor 4
|
TMC1
|
transmembrane channel-like 1
|
TMEM106B
|
transmembrane protein 106B
|
TMEM43
|
transmembrane protein 43
|
TMEM5
|
transmembrane protein 5
|
TMIE
|
transmembrane inner ear
|
TMPRSS3
|
transmembrane protease, serine 3
|
TNC
|
tenascin C
|
TNF
|
tumor necrosis factor
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
TOR1A
|
torsin family 1, member A (torsin A)
|
TOX3
|
TOX high mobility group box family member 3
|
TPP1
|
tripeptidyl peptidase I
|
TPRN
|
taperin
|
TRAPPC11
|
trafficking protein particle complex 11
|
TREX1
|
three prime repair exonuclease 1
|
TRIM2
|
tripartite motif containing 2
|
TRIM32
|
tripartite motif containing 32
|
TRIOBP
|
TRIO and F-actin binding protein
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
TRPM7
|
transient receptor potential cation channel, subfamily M, member 7
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
TSC1
|
tuberous sclerosis 1
|
TSPEAR
|
thrombospondin-type laminin G domain and EAR repeats
|
TTBK2
|
tau tubulin kinase 2
|
TTC8
|
tetratricopeptide repeat domain 8
|
TTLL5
|
tubulin tyrosine ligase-like family member 5
|
TTN
|
titin
|
TTR
|
transthyretin
|
TULP1
|
tubby like protein 1
|
TXNDC12
|
thioredoxin domain containing 12 (endoplasmic reticulum)
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
UBQLN2
|
ubiquilin 2
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
UNC119
|
unc-119 homolog (C. elegans)
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
VAX1
|
ventral anterior homeobox 1
|
VCAN
|
versican
|
VCP
|
valosin containing protein
|
VIM
|
vimentin
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
VSX2
|
visual system homeobox 2
|
WDR19
|
WD repeat domain 19
|
WDR36
|
WD repeat domain 36
|
WDR45
|
WD repeat domain 45
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
WNK1
|
WNK lysine deficient protein kinase 1
|
WWOX
|
WW domain containing oxidoreductase
|
YARS
|
tyrosyl-tRNA synthetase
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
ZIC1
|
Zic family member 1
|
ZIC4
|
Zic family member 4
|
ZNF513
|
zinc finger protein 513
|
ZNF592
|
zinc finger protein 592
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