| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCA5
|
ATP-binding cassette, sub-family A (ABC1), member 5
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACE
|
angiotensin I converting enzyme
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
ARX
|
aristaless related homeobox
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BEST1
|
bestrophin 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF10
|
chromosome 12 open reading frame 10
|
|
C3
|
complement component 3
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
|
CAMP
|
cathelicidin antimicrobial peptide
|
|
CARD14
|
caspase recruitment domain family, member 14
|
|
CAT
|
catalase
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCL17
|
chemokine (C-C motif) ligand 17
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCL3
|
chemokine (C-C motif) ligand 3
|
|
CCR1
|
chemokine (C-C motif) receptor 1
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDSN
|
corneodesmosin
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CFH
|
complement factor H
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHRFAM7A
|
CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTSC
|
cathepsin C
|
|
CXCL13
|
chemokine (C-X-C motif) ligand 13
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
DEL15Q11.2
|
Chromosome 15q11.2 deletion syndrome
|
|
DEL15Q13.3
|
Chromosome 15q13.3 microdeletion syndrome
|
|
DEL17Q12
|
Chromosome 17q12 deletion syndrome
|
|
DPP4
|
dipeptidyl-peptidase 4
|
|
DRD2
|
dopamine receptor D2
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ESR1
|
estrogen receptor 1
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FCGR3B
|
Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
|
|
FGF13
|
fibroblast growth factor 13
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FOPNL
|
FGFR1OP N-terminal like
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC2
|
forkhead box C2
|
|
FOXP1
|
forkhead box P1
|
|
FOXP3
|
forkhead box P3
|
|
FRZB
|
frizzled-related protein
|
|
FTL
|
ferritin, light polypeptide
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRM4
|
glutamate receptor, metabotropic 4
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HCN2
|
hyperpolarization activated cyclic nucleotide gated potassium channel 2
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HIST1H1A
|
histone cluster 1, H1a
|
|
HIST1H1C
|
histone cluster 1, H1c
|
|
HIST1H1D
|
histone cluster 1, H1d
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HP
|
haptoglobin
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
IFNG
|
interferon, gamma
|
|
IL10
|
interleukin 10
|
|
IL17A
|
interleukin 17A
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL22
|
interleukin 22
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNMB3
|
potassium channel subfamily M regulatory beta subunit 3
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LMNA
|
lamin A/C
|
|
MAGT1
|
magnesium transporter 1
|
|
MAOA
|
monoamine oxidase A
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MIR155
|
microRNA 155
|
|
MMP12
|
matrix metallopeptidase 12
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP8
|
matrix metallopeptidase 8
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MYOT
|
myotilin
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NLRP1
|
NLR family, pyrin domain containing 1
|
|
NPAP1
|
nuclear pore associated protein 1
|
|
NPPC
|
natriuretic peptide C
|
|
NPY
|
neuropeptide Y
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NRXN1
|
neurexin 1
|
|
OXT
|
oxytocin/neurophysin I prepropeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PLAT
|
plasminogen activator, tissue
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
PON1
|
paraoxonase 1
|
|
PSEN1
|
presenilin 1
|
|
PSMD9
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
|
|
PTK2
|
protein tyrosine kinase 2
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RB1
|
retinoblastoma 1
|
|
RBFOX1
|
RNA binding protein, fox-1 homolog (C. elegans) 1
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
RHOA
|
ras homolog family member A
|
|
S100B
|
S100 calcium binding protein B
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
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
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMOC2
|
SPARC related modular calcium binding 2
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
ST6GAL1
|
ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SYT11
|
synaptotagmin XI
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TNF
|
tumor necrosis factor
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TRPC4
|
transient receptor potential cation channel, subfamily C, member 4
|
|
TSLP
|
thymic stromal lymphopoietin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TYR
|
tyrosinase
|
|
UCN
|
urocortin
|
|
VAMP2
|
vesicle-associated membrane protein 2 (synaptobrevin 2)
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
VRK2
|
vaccinia related kinase 2
|
|
XBP1
|
X-box binding protein 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
