| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCA2
|
ATP-binding cassette, sub-family A (ABC1), member 2
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACTN3
|
actinin, alpha 3 (gene/pseudogene)
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGR2
|
anterior gradient 2
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIRE
|
autoimmune regulator
|
|
AK1
|
adenylate kinase 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANGPTL4
|
angiopoietin-like 4
|
|
APC
|
adenomatous polyposis coli
|
|
APOA5
|
apolipoprotein A-V
|
|
APOB
|
apolipoprotein B
|
|
APOC1
|
apolipoprotein C-I
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP5J
|
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN2
|
ataxin 2
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B3GAT1
|
beta-1,3-glucuronyltransferase 1
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BBC3
|
BCL2 binding component 3
|
|
BCHE
|
butyrylcholinesterase
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRAP
|
BRCA1 associated protein
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C3
|
complement component 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CAPN10
|
calpain 10
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CCL21
|
chemokine (C-C motif) ligand 21
|
|
CCL3L1
|
chemokine (C-C motif) ligand 3-like 1
|
|
CCL4L2
|
chemokine (C-C motif) ligand 4-like 2
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CCND1
|
cyclin D1
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CCR7
|
chemokine (C-C motif) receptor 7
|
|
CD14
|
CD14 molecule
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CD24
|
CD24 molecule
|
|
CD27
|
CD27 molecule
|
|
CD34
|
CD34 molecule
|
|
CD4
|
CD4 molecule
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CD9
|
CD9 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDX2
|
caudal type homeobox 2
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHD8
|
chromodomain helicase DNA binding protein 8
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHN1
|
chimerin 1
|
|
CHRNA5
|
cholinergic receptor, nicotinic, alpha 5 (neuronal)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLDN4
|
claudin 4
|
|
CMA1
|
chymase 1, mast cell
|
|
COCH
|
cochlin
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ10A
|
coenzyme Q10 homolog A (S. cerevisiae)
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CREG1
|
cellular repressor of E1A-stimulated genes 1
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRTC1
|
CREB regulated transcription coactivator 1
|
|
CRX
|
cone-rod homeobox
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTRL
|
chymotrypsin-like
|
|
CTSD
|
cathepsin D
|
|
CX3CL1
|
chemokine (C-X3-C motif) ligand 1
|
|
CXCL12
|
chemokine (C-X-C motif) ligand 12
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP1A2
|
cytochrome P450, family 1, subfamily A, polypeptide 2
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DDIT3
|
DNA-damage-inducible transcript 3
|
|
DES
|
desmin
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOK7
|
docking protein 7
|
|
DPY30
|
dpy-30 homolog (C. elegans)
|
|
DRD3
|
dopamine receptor D3
|
|
DRD4
|
dopamine receptor D4
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EBAG9
|
estrogen receptor binding site associated, antigen, 9
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFNB1
|
ephrin-B1
|
|
EGF
|
epidermal growth factor
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF5A2
|
eukaryotic translation initiation factor 5A2
|
|
ELN
|
elastin
|
|
EMC7
|
ER membrane protein complex subunit 7
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPHB6
|
EPH receptor B6
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
EPO
|
erythropoietin
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
ETS2
|
v-ets avian erythroblastosis virus E26 oncogene homolog 2
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F11
|
coagulation factor XI
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FBN1
|
fibrillin 1
|
|
FCGR2B
|
Fc fragment of IgG, low affinity IIb, receptor (CD32)
|
|
FECH
|
ferrochelatase
|
|
FGB
|
fibrinogen beta chain
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FLNA
|
filamin A, alpha
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FNBP1L
|
formin binding protein 1-like
|
|
FOXC2
|
forkhead box C2
|
|
FOXM1
|
forkhead box M1
|
|
FOXP3
|
forkhead box P3
|
|
FPR1
|
formyl peptide receptor 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FRMD7
|
FERM domain containing 7
|
|
FSHB
|
follicle stimulating hormone, beta polypeptide
|
|
FZD4
|
frizzled class receptor 4
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GH1
|
growth hormone 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLTP
|
glycolipid transfer protein
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GPC3
|
glypican 3
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRN
|
granulin
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HAS1
|
hyaluronan synthase 1
|
|
HAS2
|
hyaluronan synthase 2
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HESX1
|
HESX homeobox 1
|
|
HEY1
|
hes-related family bHLH transcription factor with YRPW motif 1
|
|
HEY2
|
hes-related family bHLH transcription factor with YRPW motif 2
|
|
HFE
|
hemochromatosis
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-E
|
major histocompatibility complex, class I, E
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HNMT
|
histamine N-methyltransferase
|
|
HOXD13
|
homeobox D13
|
|
HP
|
haptoglobin
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFITM5
|
interferon induced transmembrane protein 5
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IL10
|
interleukin 10
|
|
IL18
|
interleukin 18
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL2
|
interleukin 2
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
IRAK1
|
interleukin-1 receptor-associated kinase 1
|
|
IRS1
|
insulin receptor substrate 1
|
|
IRS2
|
insulin receptor substrate 2
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGA5
|
integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGAE
|
integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
ITGB4
|
integrin, beta 4
|
|
ITM2A
|
integral membrane protein 2A
|
|
JAG2
|
jagged 2
|
|
JAK2
|
Janus kinase 2
|
|
JUP
|
junction plakoglobin
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNN3
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
|
|
KCNN4
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIF1B
|
kinesin family member 1B
|
|
KIR3DL1
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
|
|
KIR3DS1
|
killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT16
|
keratin 16, type I
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT8
|
keratin 8, type II
|
|
LAG3
|
lymphocyte-activation gene 3
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LGR5
|
leucine-rich repeat containing G protein-coupled receptor 5
|
|
LHX3
|
LIM homeobox 3
|
|
LILRB4
|
leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
|
|
LMNA
|
lamin A/C
|
|
LOXL1
|
lysyl oxidase-like 1
|
|
LPL
|
lipoprotein lipase
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYVE1
|
lymphatic vessel endothelial hyaluronan receptor 1
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAP3K7
|
mitogen-activated protein kinase kinase kinase 7
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MFRP
|
membrane frizzled-related protein
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR146A
|
microRNA 146a
|
|
MIR149
|
microRNA 149
|
|
MIR200C
|
microRNA 200c
|
|
MIR206
|
microRNA 206
|
|
MIR31
|
microRNA 31
|
|
MIR663A
|
microRNA 663a
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLH1
|
mutL homolog 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MNDA
|
myeloid cell nuclear differentiation antigen
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MPZ
|
myelin protein zero
|
|
MR1
|
major histocompatibility complex, class I-related
|
|
MSH2
|
mutS homolog 2
|
|
MSN
|
moesin
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTNR1B
|
melatonin receptor 1B
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUTYH
|
mutY homolog
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYEOV
|
myeloma overexpressed
|
|
MYH10
|
myosin, heavy chain 10, non-muscle
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYL3
|
myosin, light chain 3, alkali; ventricular, skeletal, slow
|
|
MYT1L
|
myelin transcription factor 1-like
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAT1
|
N-acetyltransferase 1 (arylamine N-acetyltransferase)
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NCAM1
|
neural cell adhesion molecule 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEK1
|
NIMA-related kinase 1
|
|
NET1
|
neuroepithelial cell transforming 1
|
|
NF1
|
neurofibromin 1
|
|
NFAT5
|
nuclear factor of activated T-cells 5, tonicity-responsive
|
|
NFATC2
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NOTCH4
|
notch 4
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NPY
|
neuropeptide Y
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUP214
|
nucleoporin 214kDa
|
|
NYX
|
nyctalopin
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPN3
|
opsin 3
|
|
OPRK1
|
opioid receptor, kappa 1
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PATZ1
|
POZ (BTB) and AT hook containing zinc finger 1
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX5
|
paired box 5
|
|
PAX6
|
paired box 6
|
|
PAX9
|
paired box 9
|
|
PCDH19
|
protocadherin 19
|
|
PCMTD1
|
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDCD1
|
programmed cell death 1
|
|
PDE1B
|
phosphodiesterase 1B, calmodulin-dependent
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFD
|
platelet derived growth factor D
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PER3
|
period circadian clock 3
|
|
PIM1
|
Pim-1 proto-oncogene, serine/threonine kinase
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKP2
|
plakophilin 2
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PLCG1
|
phospholipase C, gamma 1
|
|
PLEC
|
plectin
|
|
PLEKHA7
|
pleckstrin homology domain containing, family A member 7
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PON1
|
paraoxonase 1
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POSTN
|
periostin, osteoblast specific factor
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPARA
|
peroxisome proliferator-activated receptor alpha
|
|
PPARD
|
peroxisome proliferator-activated receptor delta
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPM1D
|
protein phosphatase, Mg2+/Mn2+ dependent, 1D
|
|
PPP3R1
|
protein phosphatase 3, regulatory subunit B, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKAR2A
|
protein kinase, cAMP-dependent, regulatory, type II, alpha
|
|
PRNP
|
prion protein
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTH
|
parathyroid hormone
|
|
PTK2
|
protein tyrosine kinase 2
|
|
PTK7
|
protein tyrosine kinase 7 (inactive)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN2
|
protein tyrosine phosphatase, non-receptor type 2
|
|
PTRF
|
polymerase I and transcript release factor
|
|
QKI
|
QKI, KH domain containing, RNA binding
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RB1
|
retinoblastoma 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RCOR1
|
REST corepressor 1
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
REST
|
RE1-silencing transcription factor
|
|
RET
|
ret proto-oncogene
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RGS4
|
regulator of G-protein signaling 4
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS19
|
ribosomal protein S19
|
|
RRM2
|
ribonucleotide reductase M2
|
|
RS1
|
retinoschisin 1
|
|
RTN4
|
reticulon 4
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
S100A4
|
S100 calcium binding protein A4
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SELE
|
selectin E
|
|
SEPT9
|
septin 9
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SET
|
SET nuclear proto-oncogene
|
|
SETX
|
senataxin
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SHBG
|
sex hormone-binding globulin
|
|
SHH
|
sonic hedgehog
|
|
SHOX
|
short stature homeobox
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SIRT1
|
sirtuin 1
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC15A1
|
solute carrier family 15 (oligopeptide transporter), member 1
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC20A1
|
solute carrier family 20 (phosphate transporter), member 1
|
|
SLC22A25
|
solute carrier family 22, member 25
|
|
SLC22A9
|
solute carrier family 22 (organic anion transporter), member 9
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A6
|
solute carrier family 26 (anion exchanger), member 6
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLCO1A2
|
solute carrier organic anion transporter family, member 1A2
|
|
SMAD2
|
SMAD family member 2
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMPX
|
small muscle protein, X-linked
|
|
SMTN
|
smoothelin
|
|
SNTG2
|
syntrophin, gamma 2
|
|
SOCS3
|
suppressor of cytokine signaling 3
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPARC
|
secreted protein, acidic, cysteine-rich (osteonectin)
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SPRY1
|
sprouty homolog 1, antagonist of FGF signaling (Drosophila)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRF
|
serum response factor (c-fos serum response element-binding transcription factor)
|
|
SRI
|
sorcin
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STK11
|
serine/threonine kinase 11
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TAS2R38
|
taste receptor, type 2, member 38
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TBX5
|
T-box 5
|
|
TCF4
|
transcription factor 4
|
|
TCP1
|
t-complex 1
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFB1M
|
transcription factor B1, mitochondrial
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFRSF9
|
tumor necrosis factor receptor superfamily, member 9
|
|
TNS3
|
tensin 3
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRAT1
|
T cell receptor associated transmembrane adaptor 1
|
|
TREML1
|
triggering receptor expressed on myeloid cells-like 1
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TRNT1
|
tRNA nucleotidyl transferase, CCA-adding, 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTR
|
transthyretin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TXN
|
thioredoxin
|
|
TYMS
|
thymidylate synthetase
|
|
U2AF1
|
U2 small nuclear RNA auxiliary factor 1
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2I
|
ubiquitin-conjugating enzyme E2I
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UNC5C
|
unc-5 homolog C (C. elegans)
|
|
USF2
|
upstream transcription factor 2, c-fos interacting
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCP
|
valosin containing protein
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIM
|
vimentin
|
|
VIP
|
vasoactive intestinal peptide
|
|
VWF
|
von Willebrand factor
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
WWTR1
|
WW domain containing transcription regulator 1
|
|
YAP1
|
Yes-associated protein 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
YBX1
|
Y box binding protein 1
|
|
ZBP1
|
Z-DNA binding protein 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF804A
|
zinc finger protein 804A
|
