| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADA
|
adenosine deaminase
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AK2
|
adenylate kinase 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARMC4
|
armadillo repeat containing 4
|
|
ARSB
|
arylsulfatase B
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BIRC3
|
baculoviral IAP repeat containing 3
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLNK
|
B-cell linker
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C1R
|
complement component 1, r subcomponent
|
|
C21ORF59
|
chromosome 21 open reading frame 59
|
|
CARD11
|
caspase recruitment domain family, member 11
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC103
|
coiled-coil domain containing 103
|
|
CCDC114
|
coiled-coil domain containing 114
|
|
CCDC151
|
coiled-coil domain containing 151
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC65
|
coiled-coil domain containing 65
|
|
CCNO
|
cyclin O
|
|
CD19
|
CD19 molecule
|
|
CD3D
|
CD3d molecule, delta (CD3-TCR complex)
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CD81
|
CD81 molecule
|
|
CD8A
|
CD8a molecule
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CORO1A
|
coronin, actin binding protein, 1A
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTSC
|
cathepsin C
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCTN4
|
dynactin 4 (p62)
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNAAF1
|
dynein, axonemal, assembly factor 1
|
|
DNAAF2
|
dynein, axonemal, assembly factor 2
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAAF5
|
dynein, axonemal, assembly factor 5
|
|
DNAH11
|
dynein, axonemal, heavy chain 11
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DNAL1
|
dynein, axonemal, light chain 1
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DRC1
|
dynein regulatory complex subunit 1
|
|
DSG1
|
desmoglein 1
|
|
DYX1C1
|
dyslexia susceptibility 1 candidate 1
|
|
ECM1
|
extracellular matrix protein 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ELN
|
elastin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FCN3
|
ficolin (collagen/fibrinogen domain containing) 3
|
|
FLNA
|
filamin A, alpha
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FOXP1
|
forkhead box P1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HACD1
|
3-hydroxyacyl-CoA dehydratase 1
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HYDIN
|
HYDIN, axonemal central pair apparatus protein
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
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
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL21
|
interleukin 21
|
|
IL21R
|
interleukin 21 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INSR
|
insulin receptor
|
|
IRAK4
|
interleukin-1 receptor-associated kinase 4
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGA7
|
integrin, alpha 7
|
|
JAGN1
|
jagunal homolog 1 (Drosophila)
|
|
JAK3
|
Janus kinase 3
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KIAA0196
|
KIAA0196
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LCK
|
LCK proto-oncogene, Src family tyrosine kinase
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPN
|
lipase, family member N
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LYST
|
lysosomal trafficking regulator
|
|
MALT1
|
MALT1 paracaspase
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MGP
|
matrix Gla protein
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NELFA
|
negative elongation factor complex member A
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NME8
|
NME/NM23 family member 8
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PCNT
|
pericentrin
|
|
PEPD
|
peptidase D
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PGM3
|
phosphoglucomutase 3
|
|
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)
|
|
PLG
|
plasminogen
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLP1
|
proteolipid protein 1
|
|
PNP
|
purine nucleoside phosphorylase
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
PRKCD
|
protein kinase C, delta
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PSAP
|
prosaposin
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RANBP2
|
RAN binding protein 2
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RSPH4A
|
radial spoke head 4 homolog A (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SEPN1
|
selenoprotein N, 1
|
|
SFTPA2
|
surfactant protein A2
|
|
SFTPC
|
surfactant protein C
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
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
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX10
|
sorting nexin 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SPAG1
|
sperm associated antigen 1
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STX1A
|
syntaxin 1A (brain)
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAP2
|
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAPBP
|
TAP binding protein (tapasin)
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX6
|
T-box 6
|
|
TCF3
|
transcription factor 3
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGM1
|
transglutaminase 1
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM173
|
transmembrane protein 173
|
|
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
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TYK2
|
tyrosine kinase 2
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
UNG
|
uracil-DNA glycosylase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
