| Symbol |
Name |
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
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
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA2A
|
adrenoceptor alpha 2A
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AKR1B1
|
aldo-keto reductase family 1, member B1 (aldose reductase)
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
ANGPTL3
|
angiopoietin-like 3
|
|
ANK2
|
ankyrin 2, neuronal
|
|
APOB
|
apolipoprotein B
|
|
APOC3
|
apolipoprotein C-III
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARG1
|
arginase 1
|
|
ARX
|
aristaless related homeobox
|
|
ASPA
|
aspartoacylase
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATAD5
|
ATPase family, AAA domain containing 5
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATXN1
|
ataxin 1
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BLK
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRCC3
|
BRCA1/BRCA2-containing complex, subunit 3
|
|
BRF1
|
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C1GALT1C1
|
C1GALT1-specific chaperone 1
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CACNA2D1
|
calcium channel, voltage-dependent, alpha 2/delta subunit 1
|
|
CACNB2
|
calcium channel, voltage-dependent, beta 2 subunit
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASR
|
calcium-sensing receptor
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CES1P1
|
carboxylesterase 1 pseudogene 1
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHEK1
|
checkpoint kinase 1
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CKAP2L
|
cytoskeleton associated protein 2-like
|
|
CLDN1
|
claudin 1
|
|
CLMP
|
CXADR-like membrane protein
|
|
CNP
|
2',3'-cyclic nucleotide 3' phosphodiesterase
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COPS2
|
COP9 signalosome subunit 2
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPSF6
|
cleavage and polyadenylation specific factor 6, 68kDa
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CSTA
|
cystatin A (stefin A)
|
|
CTRC
|
chymotrypsin C (caldecrin)
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
CYP4A11
|
cytochrome P450, family 4, subfamily A, polypeptide 11
|
|
DAPK3
|
death-associated protein kinase 3
|
|
DDAH1
|
dimethylarginine dimethylaminohydrolase 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DEPDC5
|
DEP domain containing 5
|
|
DGAT1
|
diacylglycerol O-acyltransferase 1
|
|
DMD
|
dystrophin
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJC3
|
DnaJ (Hsp40) homolog, subfamily C, member 3
|
|
DNASE1L1
|
deoxyribonuclease I-like 1
|
|
DRC1
|
dynein regulatory complex subunit 1
|
|
DSP
|
desmoplakin
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF4EBP1
|
eukaryotic translation initiation factor 4E binding protein 1
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FBLIM1
|
filamin binding LIM protein 1
|
|
FECH
|
ferrochelatase
|
|
FERMT1
|
fermitin family member 1
|
|
FERMT2
|
fermitin family member 2
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FLG
|
filaggrin
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FOXM1
|
forkhead box M1
|
|
FUS
|
FUS RNA binding protein
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GALNT2
|
polypeptide N-acetylgalactosaminyltransferase 2
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GDF1
|
growth differentiation factor 1
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GNAS
|
GNAS complex locus
|
|
GNB2L1
|
guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1
|
|
GOLPH3
|
golgi phosphoprotein 3 (coat-protein)
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPC3
|
glypican 3
|
|
GPD1L
|
glycerol-3-phosphate dehydrogenase 1-like
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRIN1
|
glutamate receptor, ionotropic, N-methyl D-aspartate 1
|
|
GRK5
|
G protein-coupled receptor kinase 5
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HCCS
|
holocytochrome c synthase
|
|
HCN2
|
hyperpolarization activated cyclic nucleotide gated potassium channel 2
|
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HNRNPLL
|
heterogeneous nuclear ribonucleoprotein L-like
|
|
HOXA9
|
homeobox A9
|
|
HOXC13
|
homeobox C13
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGSF1
|
immunoglobulin superfamily, member 1
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL18R1
|
interleukin 18 receptor 1
|
|
IL18RAP
|
interleukin 18 receptor accessory protein
|
|
IL1R1
|
interleukin 1 receptor, type I
|
|
IL23R
|
interleukin 23 receptor
|
|
IL6
|
interleukin 6
|
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
ITGB6
|
integrin, beta 6
|
|
JPH2
|
junctophilin 2
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIF14
|
kinesin family member 14
|
|
KIF1B
|
kinesin family member 1B
|
|
KISS1R
|
KISS1 receptor
|
|
KL
|
klotho
|
|
KLK1
|
kallikrein 1
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT5
|
keratin 5, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LIPG
|
lipase, endothelial
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LPL
|
lipoprotein lipase
|
|
LRP6
|
low density lipoprotein receptor-related protein 6
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LZTR1
|
leucine-zipper-like transcription regulator 1
|
|
MBD1
|
methyl-CpG binding domain protein 1
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCHR1
|
melanin-concentrating hormone receptor 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MICU1
|
mitochondrial calcium uptake 1
|
|
MIR142
|
microRNA 142
|
|
MSH3
|
mutS homolog 3
|
|
MSTN
|
myostatin
|
|
MTM1
|
myotubularin 1
|
|
MURC
|
muscle-related coiled-coil protein
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYLK
|
myosin light chain kinase
|
|
MYO5B
|
myosin VB
|
|
NCSTN
|
nicastrin
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NKX3-1
|
NK3 homeobox 1
|
|
NLGN2
|
neuroligin 2
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUMB
|
numb homolog (Drosophila)
|
|
OCLN
|
occludin
|
|
OPTN
|
optineurin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PAX6
|
paired box 6
|
|
PAX9
|
paired box 9
|
|
PBRM1
|
polybromo 1
|
|
PCNT
|
pericentrin
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDCD10
|
programmed cell death 10
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
PON1
|
paraoxonase 1
|
|
POT1
|
protection of telomeres 1
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
POU2F1
|
POU class 2 homeobox 1
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PRLR
|
prolactin receptor
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PSEN1
|
presenilin 1
|
|
PSENEN
|
presenilin enhancer gamma secretase subunit
|
|
PTCH1
|
patched 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRT
|
protein tyrosine phosphatase, receptor type, T
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB5A
|
RAB5A, member RAS oncogene family
|
|
RAD51D
|
RAD51 paralog D
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RBM28
|
RNA binding motif protein 28
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RET
|
ret proto-oncogene
|
|
RIN1
|
Ras and Rab interactor 1
|
|
RNASET2
|
ribonuclease T2
|
|
SBF2
|
SET binding factor 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF2
|
succinate dehydrogenase complex assembly factor 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SETD1A
|
SET domain containing 1A
|
|
SETD2
|
SET domain containing 2
|
|
SETX
|
senataxin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX3
|
SIX homeobox 3
|
|
SLC12A4
|
solute carrier family 12 (potassium/chloride transporter), member 4
|
|
SLC22A1
|
solute carrier family 22 (organic cation transporter), member 1
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC9A9
|
solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
|
|
SMAP1
|
small ArfGAP 1
|
|
SOCS6
|
suppressor of cytokine signaling 6
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SP4
|
Sp4 transcription factor
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPINT2
|
serine peptidase inhibitor, Kunitz type, 2
|
|
SREBF1
|
sterol regulatory element binding transcription factor 1
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
SYN1
|
synapsin I
|
|
TAC3
|
tachykinin 3
|
|
TACR3
|
tachykinin receptor 3
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAZ
|
tafazzin
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBX1
|
T-box 1
|
|
TDGF1
|
teratocarcinoma-derived growth factor 1
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TDRD7
|
tudor domain containing 7
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TLN1
|
talin 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR3
|
toll-like receptor 3
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TP53
|
tumor protein p53
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TRAP1
|
TNF receptor-associated protein 1
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TYMP
|
thymidine phosphorylase
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBE2L6
|
ubiquitin-conjugating enzyme E2L 6
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
UTRN
|
utrophin
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
WASL
|
Wiskott-Aldrich syndrome-like
|
|
WEE1
|
WEE1 G2 checkpoint kinase
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
YAP1
|
Yes-associated protein 1
|
|
ZIC2
|
Zic family member 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
