| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ANKRD26
|
ankyrin repeat domain 26
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
APOE
|
apolipoprotein E
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
C2
|
complement component 2
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD19
|
CD19 molecule
|
|
CD81
|
CD81 molecule
|
|
CDSN
|
corneodesmosin
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTSA
|
cathepsin A
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DSG4
|
desmoglein 4
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENG
|
endoglin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F13B
|
coagulation factor XIII, B polypeptide
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FECH
|
ferrochelatase
|
|
FERMT1
|
fermitin family member 1
|
|
FERMT3
|
fermitin family member 3
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FTO
|
fat mass and obesity associated
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF2
|
growth differentiation factor 2
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC8
|
histone deacetylase 8
|
|
HFE
|
hemochromatosis
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HOXA11
|
homeobox A11
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGA2
|
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
JAK2
|
Janus kinase 2
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRT1
|
keratin 1, type II
|
|
KRT10
|
keratin 10, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LBR
|
lamin B receptor
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNA
|
lamin A/C
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LYST
|
lysosomal trafficking regulator
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MASTL
|
microtubule associated serine/threonine kinase-like
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MVK
|
mevalonate kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
ND1
|
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCLN
|
occludin
|
|
P2RY12
|
purinergic receptor P2Y, G-protein coupled, 12
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PEPD
|
peptidase D
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
|
PLEC
|
plectin
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POLH
|
polymerase (DNA directed), eta
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRDM16
|
PR domain containing 16
|
|
PRDM5
|
PR domain containing 5
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCD
|
protein kinase C, delta
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROS1
|
protein S (alpha)
|
|
PRTN3
|
proteinase 3
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SERPINF2
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SETX
|
senataxin
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SKI
|
SKI proto-oncogene
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNX10
|
sorting nexin 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
STIM1
|
stromal interaction molecule 1
|
|
TALDO1
|
transaldolase 1
|
|
TBX1
|
T-box 1
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGM5
|
transglutaminase 5
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMC6
|
transmembrane channel-like 6
|
|
TMC8
|
transmembrane channel-like 8
|
|
TMEM173
|
transmembrane protein 173
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TNXB
|
tenascin XB
|
|
TREX1
|
three prime repair exonuclease 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
UVSSA
|
UV-stimulated scaffold protein A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
