| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACVR2B
|
activin A receptor, type IIB
|
|
ADA
|
adenosine deaminase
|
|
AGA
|
aspartylglucosaminidase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIRE
|
autoimmune regulator
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APOA1
|
apolipoprotein A-I
|
|
APOC2
|
apolipoprotein C-II
|
|
APOE
|
apolipoprotein E
|
|
ARSB
|
arylsulfatase B
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL6
|
B-cell CLL/lymphoma 6
|
|
BPGM
|
2,3-bisphosphoglycerate mutase
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
C15ORF41
|
chromosome 15 open reading frame 41
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CA2
|
carbonic anhydrase II
|
|
CALR
|
calreticulin
|
|
CARD11
|
caspase recruitment domain family, member 11
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCND1
|
cyclin D1
|
|
CD19
|
CD19 molecule
|
|
CD27
|
CD27 molecule
|
|
CD40LG
|
CD40 ligand
|
|
CD81
|
CD81 molecule
|
|
CDAN1
|
codanin 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN1
|
claudin 1
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSA
|
cathepsin A
|
|
CTSK
|
cathepsin K
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOLK
|
dolichol kinase
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FERMT3
|
fermitin family member 3
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGG
|
fibrinogen gamma chain
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FOXF1
|
forkhead box F1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDF1
|
growth differentiation factor 1
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GLB1
|
galactosidase, beta 1
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPD1
|
glycerol-3-phosphate dehydrogenase 1 (soluble)
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBG1
|
hemoglobin, gamma A
|
|
HBG2
|
hemoglobin, gamma G
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIRA
|
histone cell cycle regulator
|
|
HK1
|
hexokinase 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT172
|
intraflagellar transport 172
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL6
|
interleukin 6
|
|
IL7R
|
interleukin 7 receptor
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
JAK2
|
Janus kinase 2
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LEMD3
|
LEM domain containing 3
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMNA
|
lamin A/C
|
|
LPIN2
|
lipin 2
|
|
LPL
|
lipoprotein lipase
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LYST
|
lysosomal trafficking regulator
|
|
LYZ
|
lysozyme
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MEFV
|
Mediterranean fever
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NEK8
|
NIMA-related kinase 8
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
OCLN
|
occludin
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PEPD
|
peptidase D
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
PIGM
|
phosphatidylinositol glycan anchor biosynthesis, class M
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CD
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PRDM16
|
PR domain containing 16
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKCD
|
protein kinase C, delta
|
|
PSAP
|
prosaposin
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
PTRF
|
polymerase I and transcript release factor
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPSA
|
ribosomal protein SA
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNX10
|
sorting nexin 10
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STIM1
|
stromal interaction molecule 1
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STX11
|
syntaxin 11
|
|
STXBP2
|
syntaxin binding protein 2
|
|
SUMF1
|
sulfatase modifying factor 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
|
|
TCTN2
|
tectonic family member 2
|
|
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
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
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
|
|
TP53
|
tumor protein p53
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TREX1
|
three prime repair exonuclease 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WT1
|
Wilms tumor 1
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZIC3
|
Zic family member 3
|
