| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC11
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 11
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABO
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADH1B
|
alcohol dehydrogenase 1B (class I), beta polypeptide
|
|
ADRB1
|
adrenoceptor beta 1
|
|
AHRR
|
aryl-hydrocarbon receptor repressor
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
ALOX5AP
|
arachidonate 5-lipoxygenase-activating protein
|
|
AMELX
|
amelogenin, X-linked
|
|
ANKK1
|
ankyrin repeat and kinase domain containing 1
|
|
APOE
|
apolipoprotein E
|
|
APOL1
|
apolipoprotein L, 1
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ART4
|
ADP-ribosyltransferase 4 (Dombrock blood group)
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP5H
|
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
|
|
ATXN2
|
ataxin 2
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BDKRB2
|
bradykinin receptor B2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C1QTNF3
|
C1q and tumor necrosis factor related protein 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALR
|
calreticulin
|
|
CCND1
|
cyclin D1
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD14
|
CD14 molecule
|
|
CD28
|
CD28 molecule
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CES1
|
carboxylesterase 1
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CNOT3
|
CCR4-NOT transcription complex, subunit 3
|
|
CNR1
|
cannabinoid receptor 1 (brain)
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1A2
|
cytochrome P450, family 1, subfamily A, polypeptide 2
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
CYP3A
|
cytochrome P450, family 3, subfamily A
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
DHFR
|
dihydrofolate reductase
|
|
DNAH8
|
dynein, axonemal, heavy chain 8
|
|
DNASE1L1
|
deoxyribonuclease I-like 1
|
|
DNASE1L2
|
deoxyribonuclease I-like 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
EGFR
|
epidermal growth factor receptor
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ESR1
|
estrogen receptor 1
|
|
EVI5
|
ecotropic viral integration site 5
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FAM69A
|
family with sequence similarity 69, member A
|
|
FCGR3B
|
Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLG
|
filaggrin
|
|
FN1
|
fibronectin 1
|
|
FOXC1
|
forkhead box C1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTL
|
ferritin, light polypeptide
|
|
FTO
|
fat mass and obesity associated
|
|
FUT3
|
fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
|
|
FZD4
|
frizzled class receptor 4
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRA2
|
gamma-aminobutyric acid (GABA) A receptor, alpha 2
|
|
GABRB2
|
gamma-aminobutyric acid (GABA) A receptor, beta 2
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GGH
|
gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
HABP2
|
hyaluronan binding protein 2
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HCP5
|
HLA complex P5 (non-protein coding)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRA
|
major histocompatibility complex, class II, DR alpha
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMHB1
|
histocompatibility (minor) HB-1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSPA1B
|
heat shock 70kDa protein 1B
|
|
HSPA1L
|
heat shock 70kDa protein 1-like
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL10
|
interleukin 10
|
|
IL13
|
interleukin 13
|
|
IL1B
|
interleukin 1, beta
|
|
IL2
|
interleukin 2
|
|
IL21
|
interleukin 21
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
IL6R
|
interleukin 6 receptor
|
|
IRS1
|
insulin receptor substrate 1
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITGB4
|
integrin, beta 4
|
|
JPH3
|
junctophilin 3
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCTD2
|
potassium channel tetramerization domain containing 2
|
|
KEL
|
Kell blood group, metallo-endopeptidase
|
|
KIF6
|
kinesin family member 6
|
|
KIR3DL1
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
|
|
KIR3DS1
|
killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LCT
|
lactase
|
|
LDLR
|
low density lipoprotein receptor
|
|
LINGO1
|
leucine rich repeat and Ig domain containing 1
|
|
LIPC
|
lipase, hepatic
|
|
LPL
|
lipoprotein lipase
|
|
MATN1
|
matrilin 1, cartilage matrix protein
|
|
MC4R
|
melanocortin 4 receptor
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MEFV
|
Mediterranean fever
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MPO
|
myeloperoxidase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYO9B
|
myosin IXB
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NCOA3
|
nuclear receptor coactivator 3
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
OPRM1
|
opioid receptor, mu 1
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PAX6
|
paired box 6
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLA2R1
|
phospholipase A2 receptor 1, 180kDa
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PON1
|
paraoxonase 1
|
|
PON2
|
paraoxonase 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROM1
|
prominin 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PSCA
|
prostate stem cell antigen
|
|
PSORS1C1
|
psoriasis susceptibility 1 candidate 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RHD
|
Rh blood group, D antigen
|
|
RPL5
|
ribosomal protein L5
|
|
SCN10A
|
sodium channel, voltage gated, type X alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINA4
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPINE2
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLC14A1
|
solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
|
|
SLC29A1
|
solute carrier family 29 (equilibrative nucleoside transporter), member 1
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SPAST
|
spastin
|
|
TBXA2R
|
thromboxane A2 receptor
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TFPI2
|
tissue factor pathway inhibitor 2
|
|
TFR2
|
transferrin receptor 2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TMEM67
|
transmembrane protein 67
|
|
TNF
|
tumor necrosis factor
|
|
TP53
|
tumor protein p53
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TRPV5
|
transient receptor potential cation channel, subfamily V, member 5
|
|
TTR
|
transthyretin
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
TYMS
|
thymidylate synthetase
|
|
UBASH3A
|
ubiquitin associated and SH3 domain containing A
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UGT1A6
|
UDP glucuronosyltransferase 1 family, polypeptide A6
|
|
UGT1A7
|
UDP glucuronosyltransferase 1 family, polypeptide A7
|
|
UGT2B4
|
UDP glucuronosyltransferase 2 family, polypeptide B4
|
|
USP9Y
|
ubiquitin specific peptidase 9, Y-linked
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
