| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
ADA
|
adenosine deaminase
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
AGA
|
aspartylglucosaminidase
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AK2
|
adenylate kinase 2
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ARHGAP26
|
Rho GTPase activating protein 26
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARHGEF12
|
Rho guanine nucleotide exchange factor (GEF) 12
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B2M
|
beta-2-microglobulin
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAX
|
BCL2-associated X protein
|
|
BCL3
|
B-cell CLL/lymphoma 3
|
|
BCR
|
breakpoint cluster region
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLNK
|
B-cell linker
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CALR
|
calreticulin
|
|
CAPN3
|
calpain 3, (p94)
|
|
CARD11
|
caspase recruitment domain family, member 11
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CBFB
|
core-binding factor, beta subunit
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CD19
|
CD19 molecule
|
|
CD247
|
CD247 molecule
|
|
CD27
|
CD27 molecule
|
|
CD3D
|
CD3d molecule, delta (CD3-TCR complex)
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CD40LG
|
CD40 ligand
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CD81
|
CD81 molecule
|
|
CD8A
|
CD8a molecule
|
|
CDSN
|
corneodesmosin
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEBPE
|
CCAAT/enhancer binding protein (C/EBP), epsilon
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CES1
|
carboxylesterase 1
|
|
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
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
CORO1A
|
coronin, actin binding protein, 1A
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCTN4
|
dynactin 4 (p62)
|
|
DES
|
desmin
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DOLK
|
dolichol kinase
|
|
DSG2
|
desmoglein 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELANE
|
elastase, neutrophil expressed
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
ERMAP
|
erythroblast membrane-associated protein (Scianna blood group)
|
|
ETV6
|
ets variant 6
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FERMT3
|
fermitin family member 3
|
|
FHL2
|
four and a half LIM domains 2
|
|
FKTN
|
fukutin
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GBA
|
glucosidase, beta, acid
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GLB1
|
galactosidase, beta 1
|
|
GMPS
|
guanine monphosphate synthase
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GSS
|
glutathione synthetase
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IKBKB
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL21
|
interleukin 21
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IRAK4
|
interleukin-1 receptor-associated kinase 4
|
|
ITGB2
|
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAGN1
|
jagunal homolog 1 (Drosophila)
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLHDC8B
|
kelch domain containing 8B
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
KRT9
|
keratin 9, type I
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LBR
|
lamin B receptor
|
|
LDB3
|
LIM domain binding 3
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNB2
|
lamin B2
|
|
LPIN2
|
lipin 2
|
|
LPP
|
LIM domain containing preferred translocation partner in lipoma
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LYL1
|
lymphoblastic leukemia associated hematopoiesis regulator 1
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAGT1
|
magnesium transporter 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MEFV
|
Mediterranean fever
|
|
MLF1
|
myeloid leukemia factor 1
|
|
MLH1
|
mutL homolog 1
|
|
MLLT10
|
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYPN
|
myopalladin
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NF1
|
neurofibromin 1
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NUP214
|
nucleoporin 214kDa
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PBX1
|
pre-B-cell leukemia homeobox 1
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PGM3
|
phosphoglucomutase 3
|
|
PICALM
|
phosphatidylinositol binding clathrin assembly protein
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CD
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
|
PLN
|
phospholamban
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
PRDM16
|
PR domain containing 16
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKCD
|
protein kinase C, delta
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSG1
|
pregnancy specific beta-1-glycoprotein 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAC2
|
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RARA
|
retinoic acid receptor, alpha
|
|
RB1
|
retinoblastoma 1
|
|
RBM20
|
RNA binding motif protein 20
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
RPL11
|
ribosomal protein L11
|
|
RPL15
|
ribosomal protein L15
|
|
RPL26
|
ribosomal protein L26
|
|
RPL35A
|
ribosomal protein L35a
|
|
RPL5
|
ribosomal protein L5
|
|
RPS10
|
ribosomal protein S10
|
|
RPS17
|
ribosomal protein S17
|
|
RPS19
|
ribosomal protein S19
|
|
RPS24
|
ribosomal protein S24
|
|
RPS26
|
ribosomal protein S26
|
|
RPS29
|
ribosomal protein S29
|
|
RPS7
|
ribosomal protein S7
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
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)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETX
|
senataxin
|
|
SFTPA2
|
surfactant protein A2
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SH3GL1
|
SH3-domain GRB2-like 1
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SP110
|
SP110 nuclear body protein
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STK4
|
serine/threonine kinase 4
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STX11
|
syntaxin 11
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STXBP2
|
syntaxin binding protein 2
|
|
TAZ
|
tafazzin
|
|
TBX1
|
T-box 1
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCAP
|
titin-cap
|
|
TCF3
|
transcription factor 3
|
|
TCN2
|
transcobalamin II
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THPO
|
thrombopoietin
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLX1
|
T-cell leukemia homeobox 1
|
|
TMEM173
|
transmembrane protein 173
|
|
TMPO
|
thymopoietin
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTN
|
titin
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
TYK2
|
tyrosine kinase 2
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
UNG
|
uracil-DNA glycosylase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VCL
|
vinculin
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WHSC1L1
|
Wolf-Hirschhorn syndrome candidate 1-like 1
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
