| Symbol |
Name |
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACE2
|
angiotensin I converting enzyme 2
|
|
ADD1
|
adducin 1 (alpha)
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA1B
|
adrenoceptor alpha 1B
|
|
ADRA1D
|
adrenoceptor alpha 1D
|
|
AGER
|
advanced glycosylation end product-specific receptor
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AHSG
|
alpha-2-HS-glycoprotein
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALOX15
|
arachidonate 15-lipoxygenase
|
|
ANOS1
|
anosmin 1
|
|
APBA1
|
amyloid beta (A4) precursor protein-binding, family A, member 1
|
|
APOA5
|
apolipoprotein A-V
|
|
APOC3
|
apolipoprotein C-III
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP4
|
aquaporin 4
|
|
AR
|
androgen receptor
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AVP
|
arginine vasopressin
|
|
BGLAP
|
bone gamma-carboxyglutamate (gla) protein
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRINP1
|
bone morphogenetic protein/retinoic acid inducible neural-specific 1
|
|
C3
|
complement component 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA9
|
carbonic anhydrase IX
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CARM1
|
coactivator-associated arginine methyltransferase 1
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCND2
|
cyclin D2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD38
|
CD38 molecule
|
|
CDIPT
|
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CERKL
|
ceramide kinase-like
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CKB
|
creatine kinase, brain
|
|
CLU
|
clusterin
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CORIN
|
corin, serine peptidase
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRH
|
corticotropin releasing hormone
|
|
CRLF2
|
cytokine receptor-like factor 2
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
DAB2
|
Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
|
|
DEFA1
|
defensin, alpha 1
|
|
DEFA3
|
defensin, alpha 3, neutrophil-specific
|
|
DEFB4A
|
defensin, beta 4A
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
DSC2
|
desmocollin 2
|
|
DSG2
|
desmoglein 2
|
|
DUSP1
|
dual specificity phosphatase 1
|
|
EDNRB
|
endothelin receptor type B
|
|
EGFR
|
epidermal growth factor receptor
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ENTPD1
|
ectonucleoside triphosphate diphosphohydrolase 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ESR1
|
estrogen receptor 1
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F9
|
coagulation factor IX
|
|
FAP
|
fibroblast activation protein, alpha
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FAT1
|
FAT atypical cadherin 1
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FHIT
|
fragile histidine triad
|
|
FKRP
|
fukutin related protein
|
|
FLG
|
filaggrin
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GAS6
|
growth arrest-specific 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GGT2
|
gamma-glutamyltransferase 2
|
|
GH1
|
growth hormone 1
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAS
|
GNAS complex locus
|
|
GPT
|
glutamic-pyruvate transaminase (alanine aminotransferase)
|
|
GSK3A
|
glycogen synthase kinase 3 alpha
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HBB
|
hemoglobin, beta
|
|
HCP5
|
HLA complex P5 (non-protein coding)
|
|
HFE
|
hemochromatosis
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXB13
|
homeobox B13
|
|
HP
|
haptoglobin
|
|
HSF1
|
heat shock transcription factor 1
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
ID2
|
inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IGFBP1
|
insulin-like growth factor binding protein 1
|
|
IL10
|
interleukin 10
|
|
IL18
|
interleukin 18
|
|
IL1B
|
interleukin 1, beta
|
|
IL4
|
interleukin 4
|
|
IL4R
|
interleukin 4 receptor
|
|
IL6
|
interleukin 6
|
|
IRS2
|
insulin receptor substrate 2
|
|
JAK2
|
Janus kinase 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KIR2DL3
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
LCN2
|
lipocalin 2
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEPR
|
leptin receptor
|
|
LMNA
|
lamin A/C
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAP3K14
|
mitogen-activated protein kinase kinase kinase 14
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MIR328
|
microRNA 328
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP8
|
matrix metallopeptidase 8
|
|
MT-TL1
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUTYH
|
mutY homolog
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NCOA4
|
nuclear receptor coactivator 4
|
|
NEUROG1
|
neurogenin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH3
|
notch 3
|
|
NPHP4
|
nephronophthisis 4
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPPB
|
natriuretic peptide B
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
NTRK3
|
neurotrophic tyrosine kinase, receptor, type 3
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIM1
|
Pim-1 proto-oncogene, serine/threonine kinase
|
|
PLN
|
phospholamban
|
|
PML
|
promyelocytic leukemia
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPARA
|
peroxisome proliferator-activated receptor alpha
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRG4
|
proteoglycan 4
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PSEN1
|
presenilin 1
|
|
PSMD10
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH
|
parathyroid hormone
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYY
|
peptide YY
|
|
RARB
|
retinoic acid receptor, beta
|
|
RARRES2
|
retinoic acid receptor responder (tazarotene induced) 2
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RET
|
ret proto-oncogene
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
RLN2
|
relaxin 2
|
|
ROR1
|
receptor tyrosine kinase-like orphan receptor 1
|
|
ROS1
|
ROS proto-oncogene 1 , receptor tyrosine kinase
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RS1
|
retinoschisin 1
|
|
RUNX3
|
runt-related transcription factor 3
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B1
|
splicing factor 3b, subunit 1, 155kDa
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC19A1
|
solute carrier family 19 (folate transporter), member 1
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMAD4
|
SMAD family member 4
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TACR2
|
tachykinin receptor 2
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
THBD
|
thrombomodulin
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TLR2
|
toll-like receptor 2
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TNF
|
tumor necrosis factor
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TRIB3
|
tribbles pseudokinase 3
|
|
TTF1
|
transcription termination factor, RNA polymerase I
|
|
TTR
|
transthyretin
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYR
|
tyrosinase
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
ZFHX3
|
zinc finger homeobox 3
|
