| Symbol |
Name |
|
AAA1
|
aortic aneurysm, familial abdominal 1
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA2A
|
adrenoceptor alpha 2A
|
|
ADRB1
|
adrenoceptor beta 1
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ANKRD30A
|
ankyrin repeat domain 30A
|
|
APC
|
adenomatous polyposis coli
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AQP4
|
aquaporin 4
|
|
ASIC2
|
acid sensing (proton gated) ion channel 2
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATN1
|
atrophin 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN2
|
ataxin 2
|
|
AVP
|
arginine vasopressin
|
|
AVPR1A
|
arginine vasopressin receptor 1A
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNB2
|
calcium channel, voltage-dependent, beta 2 subunit
|
|
CASR
|
calcium-sensing receptor
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD38
|
CD38 molecule
|
|
CDA
|
cytidine deaminase
|
|
CDC73
|
cell division cycle 73
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CEACAM5
|
carcinoembryonic antigen-related cell adhesion molecule 5
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNB2
|
cholinergic receptor, nicotinic, beta 2 (neuronal)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
CRHR1
|
corticotropin releasing hormone receptor 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRTC2
|
CREB regulated transcription coactivator 2
|
|
CYP1A1
|
cytochrome P450, family 1, 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
|
|
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
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
CYP4F2
|
cytochrome P450, family 4, subfamily F, polypeptide 2
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD2
|
dopamine receptor D2
|
|
DRD3
|
dopamine receptor D3
|
|
DRD4
|
dopamine receptor D4
|
|
EDN1
|
endothelin 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EMD
|
emerin
|
|
EPB41L3
|
erythrocyte membrane protein band 4.1-like 3
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESR1
|
estrogen receptor 1
|
|
ETV5
|
ets variant 5
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F11
|
coagulation factor XI
|
|
F2
|
coagulation factor II (thrombin)
|
|
F2R
|
coagulation factor II (thrombin) receptor
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FBN1
|
fibrillin 1
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FGA
|
fibrinogen alpha chain
|
|
FH
|
fumarate hydratase
|
|
FLCN
|
folliculin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXL2
|
forkhead box L2
|
|
FTL
|
ferritin, light polypeptide
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA4
|
GATA binding protein 4
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLA
|
galactosidase, alpha
|
|
GNB1L
|
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
|
|
GPC3
|
glypican 3
|
|
GPT
|
glutamic-pyruvate transaminase (alanine aminotransferase)
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTZ1
|
glutathione S-transferase zeta 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HOXB13
|
homeobox B13
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IDE
|
insulin-degrading enzyme
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFNA1
|
interferon, alpha 1
|
|
IFNL3
|
interferon, lambda 3
|
|
IGFBP1
|
insulin-like growth factor binding protein 1
|
|
IGL
|
immunoglobulin lambda locus
|
|
IGLC2
|
immunoglobulin lambda constant 2 (Kern-Oz- marker)
|
|
IL10
|
interleukin 10
|
|
IL15
|
interleukin 15
|
|
IMPDH2
|
IMP (inosine 5'-monophosphate) dehydrogenase 2
|
|
IRS1
|
insulin receptor substrate 1
|
|
ITGAM
|
integrin, alpha M (complement component 3 receptor 3 subunit)
|
|
ITGAV
|
integrin, alpha V
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
JAK2
|
Janus kinase 2
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIAA0226L
|
KIAA0226-like
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLK2
|
kallikrein-related peptidase 2
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT2
|
keratin 2, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LETMD1
|
LETM1 domain containing 1
|
|
LIF
|
leukemia inhibitory factor
|
|
LMNA
|
lamin A/C
|
|
LOXL2
|
lysyl oxidase-like 2
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LRRTM1
|
leucine rich repeat transmembrane neuronal 1
|
|
LY75
|
lymphocyte antigen 75
|
|
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
|
|
MEF2A
|
myocyte enhancer factor 2A
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MLH1
|
mutL homolog 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPO
|
myeloperoxidase
|
|
MPZ
|
myelin protein zero
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT1X
|
metallothionein 1X
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTNR1A
|
melatonin receptor 1A
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUC5AC
|
mucin 5AC, oligomeric mucus/gel-forming
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MUTYH
|
mutY homolog
|
|
MVK
|
mevalonate kinase
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NF1
|
neurofibromin 1
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLN
|
neurolysin (metallopeptidase M3 family)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPPB
|
natriuretic peptide B
|
|
NRXN1
|
neurexin 1
|
|
NUP214
|
nucleoporin 214kDa
|
|
OCA2
|
oculocutaneous albinism II
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OXTR
|
oxytocin receptor
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX4
|
paired box 4
|
|
PCA3
|
prostate cancer associated 3 (non-protein coding)
|
|
PCDH19
|
protocadherin 19
|
|
PDCD1
|
programmed cell death 1
|
|
PDCD10
|
programmed cell death 10
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PGR
|
progesterone receptor
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PON1
|
paraoxonase 1
|
|
PPARA
|
peroxisome proliferator-activated receptor alpha
|
|
PPBP
|
pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRTN3
|
proteinase 3
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAD51D
|
RAD51 paralog D
|
|
RARB
|
retinoic acid receptor, beta
|
|
RB1
|
retinoblastoma 1
|
|
RET
|
ret proto-oncogene
|
|
RHD
|
Rh blood group, D antigen
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RS1
|
retinoschisin 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
S100A9
|
S100 calcium binding protein A9
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SEPT9
|
septin 9
|
|
SFRP2
|
secreted frizzled-related protein 2
|
|
SGCZ
|
sarcoglycan, zeta
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC11A1
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SLC6A12
|
solute carrier family 6 (neurotransmitter transporter), member 12
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SPAST
|
spastin
|
|
STMN1
|
stathmin 1
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
TBX5
|
T-box 5
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGFBR3
|
transforming growth factor, beta receptor III
|
|
THOP1
|
thimet oligopeptidase 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMEFF2
|
transmembrane protein with EGF-like and two follistatin-like domains 2
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSPO
|
translocator protein (18kDa)
|
|
TTR
|
transthyretin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIM
|
vimentin
|
|
VIPR2
|
vasoactive intestinal peptide receptor 2
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
VWF
|
von Willebrand factor
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
