| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
|
|
ABO
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AFP
|
alpha-fetoprotein
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
AMELX
|
amelogenin, X-linked
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
APOA5
|
apolipoprotein A-V
|
|
APOBEC1
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
|
|
APOC3
|
apolipoprotein C-III
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP5
|
aquaporin 5
|
|
AR
|
androgen receptor
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATXN1
|
ataxin 1
|
|
AZF1
|
azoospermia factor 1
|
|
B2M
|
beta-2-microglobulin
|
|
BAX
|
BCL2-associated X protein
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BNIP3
|
BCL2/adenovirus E1B 19kDa interacting protein 3
|
|
BPI
|
bactericidal/permeability-increasing protein
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
C1ORF27
|
chromosome 1 open reading frame 27
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CD163
|
CD163 molecule
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD68
|
CD68 molecule
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CENPF
|
centromere protein F, 350/400kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK2
|
checkpoint kinase 2
|
|
CLCN3
|
chloride channel, voltage-sensitive 3
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
CRHR1
|
corticotropin releasing hormone receptor 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CTSC
|
cathepsin C
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DAOA
|
D-amino acid oxidase activator
|
|
DDIT3
|
DNA-damage-inducible transcript 3
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DRD1
|
dopamine receptor D1
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
DSG3
|
desmoglein 3
|
|
DUX4L1
|
double homeobox 4 like 1
|
|
EDN1
|
endothelin 1
|
|
EDNRB
|
endothelin receptor type B
|
|
EGFR
|
epidermal growth factor receptor
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ENPP2
|
ectonucleotide pyrophosphatase/phosphodiesterase 2
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESPL1
|
extra spindle pole bodies homolog 1 (S. cerevisiae)
|
|
F11
|
coagulation factor XI
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FCN2
|
ficolin (collagen/fibrinogen domain containing lectin) 2
|
|
FH
|
fumarate hydratase
|
|
FOXE1
|
forkhead box E1
|
|
FST
|
follistatin
|
|
FTO
|
fat mass and obesity associated
|
|
FUS
|
FUS RNA binding protein
|
|
GATA4
|
GATA binding protein 4
|
|
GGT1
|
gamma-glutamyltransferase 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GPC3
|
glypican 3
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
H2AFX
|
H2A histone family, member X
|
|
HBB
|
hemoglobin, beta
|
|
HBD
|
hemoglobin, delta
|
|
HBEGF
|
heparin-binding EGF-like growth factor
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
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
|
|
HPN
|
hepsin
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFNG
|
interferon, gamma
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGFBP3
|
insulin-like growth factor binding protein 3
|
|
IKZF2
|
IKAROS family zinc finger 2 (Helios)
|
|
IL12B
|
interleukin 12B
|
|
IL13
|
interleukin 13
|
|
IL18
|
interleukin 18
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL2
|
interleukin 2
|
|
IL23A
|
interleukin 23, alpha subunit p19
|
|
IL23R
|
interleukin 23 receptor
|
|
INS
|
insulin
|
|
IRS1
|
insulin receptor substrate 1
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
KCNB1
|
potassium channel, voltage gated Shab related subfamily B, member 1
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNK10
|
potassium channel, two pore domain subfamily K, member 10
|
|
KCNK16
|
potassium channel, two pore domain subfamily K, member 16
|
|
KCNK18
|
potassium channel, two pore domain subfamily K, member 18
|
|
KCNK2
|
potassium channel, two pore domain subfamily K, member 2
|
|
KCNK3
|
potassium channel, two pore domain subfamily K, member 3
|
|
KDR
|
kinase insert domain receptor
|
|
KLF10
|
Kruppel-like factor 10
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT9
|
keratin 9, type I
|
|
LCT
|
lactase
|
|
LDHA
|
lactate dehydrogenase A
|
|
LIPC
|
lipase, hepatic
|
|
LMO2
|
LIM domain only 2 (rhombotin-like 1)
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTBP1
|
latent transforming growth factor beta binding protein 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MCHR1
|
melanin-concentrating hormone receptor 1
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MIR143
|
microRNA 143
|
|
MIR24-2
|
microRNA 24-2
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MST1R
|
macrophage stimulating 1 receptor
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MUTYH
|
mutY homolog
|
|
MYH10
|
myosin, heavy chain 10, non-muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPSR1
|
neuropeptide S receptor 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRG1
|
neuregulin 1
|
|
NTF3
|
neurotrophin 3
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PDCD1
|
programmed cell death 1
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PPAP2B
|
phosphatidic acid phosphatase type 2B
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PRKCB
|
protein kinase C, beta
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSMA4
|
proteasome (prosome, macropain) subunit, alpha type, 4
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTN
|
pleiotrophin
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RASAL1
|
RAS protein activator like 1 (GAP1 like)
|
|
RETN
|
resistin
|
|
RNASE3
|
ribonuclease, RNase A family, 3
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RXRG
|
retinoid X receptor, gamma
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SCG5
|
secretogranin V
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SHBG
|
sex hormone-binding globulin
|
|
SHH
|
sonic hedgehog
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMAD7
|
SMAD family member 7
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCG
|
synuclein, gamma (breast cancer-specific protein 1)
|
|
SNX12
|
sorting nexin 12
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORCS1
|
sortilin-related VPS10 domain containing receptor 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SRY
|
sex determining region Y
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
TAL1
|
T-cell acute lymphocytic leukemia 1
|
|
TBX2
|
T-box 2
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM5
|
transglutaminase 5
|
|
TLR1
|
toll-like receptor 1
|
|
TLR10
|
toll-like receptor 10
|
|
TLR4
|
toll-like receptor 4
|
|
TLR6
|
toll-like receptor 6
|
|
TLR9
|
toll-like receptor 9
|
|
TLX1
|
T-cell leukemia homeobox 1
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF18
|
tumor necrosis factor receptor superfamily, member 18
|
|
TNFSF13B
|
tumor necrosis factor (ligand) superfamily, member 13b
|
|
TNFSF15
|
tumor necrosis factor (ligand) superfamily, member 15
|
|
TOMM40
|
translocase of outer mitochondrial membrane 40 homolog (yeast)
|
|
TP53
|
tumor protein p53
|
|
TPO
|
thyroid peroxidase
|
|
TRIM31
|
tripartite motif containing 31
|
|
UGT1A4
|
UDP glucuronosyltransferase 1 family, polypeptide A4
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCP
|
valosin containing protein
|
|
WWC1
|
WW and C2 domain containing 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
