| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACMSD
|
aminocarboxymuconate semialdehyde decarboxylase
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTN4
|
actinin, alpha 4
|
|
ACVR2A
|
activin A receptor, type IIA
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAM19
|
ADAM metallopeptidase domain 19
|
|
ADAM29
|
ADAM metallopeptidase domain 29
|
|
ADAM7
|
ADAM metallopeptidase domain 7
|
|
ADCY3
|
adenylate cyclase 3
|
|
ADD1
|
adducin 1 (alpha)
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AGTR2
|
angiotensin II receptor, type 2
|
|
AHCY
|
adenosylhomocysteinase
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AK2
|
adenylate kinase 2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMOTL1
|
angiomotin like 1
|
|
ANO1
|
anoctamin 1, calcium activated chloride channel
|
|
APC
|
adenomatous polyposis coli
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARID2
|
AT rich interactive domain 2 (ARID, RFX-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSA
|
arylsulfatase A
|
|
ASPH
|
aspartate beta-hydroxylase
|
|
ASTE1
|
asteroid homolog 1 (Drosophila)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
AURKC
|
aurora kinase C
|
|
AVP
|
arginine vasopressin
|
|
AXIN2
|
axin 2
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BAD
|
BCL2-associated agonist of cell death
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAX
|
BCL2-associated X protein
|
|
BCL10
|
B-cell CLL/lymphoma 10
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL2L1
|
BCL2-like 1
|
|
BCORL1
|
BCL6 corepressor-like 1
|
|
BCR
|
breakpoint cluster region
|
|
BDKRB2
|
bradykinin receptor B2
|
|
BECN1
|
beclin 1, autophagy related
|
|
BIN1
|
bridging integrator 1
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP1
|
bone morphogenetic protein 1
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CA2
|
carbonic anhydrase II
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALCRL
|
calcitonin receptor-like
|
|
CALR
|
calreticulin
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASP14
|
caspase 14, apoptosis-related cysteine peptidase
|
|
CASP5
|
caspase 5, apoptosis-related cysteine peptidase
|
|
CASP6
|
caspase 6, apoptosis-related cysteine peptidase
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CASP9
|
caspase 9, apoptosis-related cysteine peptidase
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAV3
|
caveolin 3
|
|
CBFA2T3
|
core-binding factor, runt domain, alpha subunit 2; translocated to, 3
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC103
|
coiled-coil domain containing 103
|
|
CCDC6
|
coiled-coil domain containing 6
|
|
CCND1
|
cyclin D1
|
|
CD207
|
CD207 molecule, langerin
|
|
CD27
|
CD27 molecule
|
|
CD38
|
CD38 molecule
|
|
CD4
|
CD4 molecule
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CD40LG
|
CD40 ligand
|
|
CD46
|
CD46 molecule, complement regulatory protein
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CDC73
|
cell division cycle 73
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDX2
|
caudal type homeobox 2
|
|
CEACAM16
|
carcinoembryonic antigen-related cell adhesion molecule 16
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFH
|
complement factor H
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHD8
|
chromodomain helicase DNA binding protein 8
|
|
CHEK1
|
checkpoint kinase 1
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHFR
|
checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CIC
|
capicua transcriptional repressor
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLSPN
|
claspin
|
|
CNNM2
|
cyclin and CBS domain divalent metal cation transport mediator 2
|
|
CNOT3
|
CCR4-NOT transcription complex, subunit 3
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COBL
|
cordon-bleu WH2 repeat protein
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CREBBP
|
CREB binding protein
|
|
CRH
|
corticotropin releasing hormone
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CST3
|
cystatin C
|
|
CTNNA2
|
catenin (cadherin-associated protein), alpha 2
|
|
CTNNA3
|
catenin (cadherin-associated protein), alpha 3
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNNBIP1
|
catenin, beta interacting protein 1
|
|
CTSD
|
cathepsin D
|
|
CUL1
|
cullin 1
|
|
CUL3
|
cullin 3
|
|
CUL4B
|
cullin 4B
|
|
CUL5
|
cullin 5
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYCS
|
cytochrome c, somatic
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP21A1P
|
cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
DBF4
|
DBF4 zinc finger
|
|
DCTN1
|
dynactin 1
|
|
DDIT3
|
DNA-damage-inducible transcript 3
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DFNM1
|
deafness (recessive, nonsyndromic) modifier 1
|
|
DLX2
|
distal-less homeobox 2
|
|
DLX5
|
distal-less homeobox 5
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD2
|
dopamine receptor D2
|
|
DRD3
|
dopamine receptor D3
|
|
DSG2
|
desmoglein 2
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DYNLRB1
|
dynein, light chain, roadblock-type 1
|
|
DYSF
|
dysferlin
|
|
E2F1
|
E2F transcription factor 1
|
|
E2F3
|
E2F transcription factor 3
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGLN2
|
egl-9 family hypoxia-inducible factor 2
|
|
EGR1
|
early growth response 1
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EML1
|
echinoderm microtubule associated protein like 1
|
|
ENG
|
endoglin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
EPOR
|
erythropoietin receptor
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ESR1
|
estrogen receptor 1
|
|
ESRRB
|
estrogen-related receptor beta
|
|
ETS1
|
v-ets avian erythroblastosis virus E26 oncogene homolog 1
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F11
|
coagulation factor XI
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FAS
|
Fas cell surface death receptor
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBXO11
|
F-box protein 11
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FERMT1
|
fermitin family member 1
|
|
FGB
|
fibrinogen beta chain
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGFR4
|
fibroblast growth factor receptor 4
|
|
FLCN
|
folliculin
|
|
FLNA
|
filamin A, alpha
|
|
FLNC
|
filamin C, gamma
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FLT3LG
|
fms-related tyrosine kinase 3 ligand
|
|
FMO1
|
flavin containing monooxygenase 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FNDC5
|
fibronectin type III domain containing 5
|
|
FNIP1
|
folliculin interacting protein 1
|
|
FOXP2
|
forkhead box P2
|
|
FOXP3
|
forkhead box P3
|
|
FPR1
|
formyl peptide receptor 1
|
|
FPR2
|
formyl peptide receptor 2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FUBP1
|
far upstream element (FUSE) binding protein 1
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRB1
|
gamma-aminobutyric acid (GABA) A receptor, beta 1
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GALR3
|
galanin receptor 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GBA
|
glucosidase, beta, acid
|
|
GCG
|
glucagon
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GH1
|
growth hormone 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLIS2
|
GLIS family zinc finger 2
|
|
GNAS
|
GNAS complex locus
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GPC3
|
glypican 3
|
|
GPIHBP1
|
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSN
|
gelsolin
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GTF2F1
|
general transcription factor IIF, polypeptide 1, 74kDa
|
|
GTF2H4
|
general transcription factor IIH, polypeptide 4, 52kDa
|
|
H2AFX
|
H2A histone family, member X
|
|
H3F3A
|
H3 histone, family 3A
|
|
HBP1
|
HMG-box transcription factor 1
|
|
HFE
|
hemochromatosis
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HIST3H3
|
histone cluster 3, H3
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS1BP3
|
HCLS1 binding protein 3
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPA8
|
heat shock 70kDa protein 8
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HTT
|
huntingtin
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT43
|
intraflagellar transport 43
|
|
IGFBP7
|
insulin-like growth factor binding protein 7
|
|
IGH
|
immunoglobulin heavy locus
|
|
IGHV3-21
|
immunoglobulin heavy variable 3-21
|
|
IGHV3-7
|
immunoglobulin heavy variable 3-7
|
|
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
|
|
IL2
|
interleukin 2
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL3
|
interleukin 3
|
|
IL6
|
interleukin 6
|
|
INPP5D
|
inositol polyphosphate-5-phosphatase, 145kDa
|
|
INTS6
|
integrator complex subunit 6
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITFG1
|
integrin alpha FG-GAP repeat containing 1
|
|
ITGA5
|
integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
|
|
ITGAV
|
integrin, alpha V
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITM2B
|
integral membrane protein 2B
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
KAT5
|
K(lysine) acetyltransferase 5
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDR
|
kinase insert domain receptor
|
|
KEAP1
|
kelch-like ECH-associated protein 1
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KLF2
|
Kruppel-like factor 2
|
|
KLHDC1
|
kelch domain containing 1
|
|
KLHL3
|
kelch-like family member 3
|
|
KLRB1
|
killer cell lectin-like receptor subfamily B, member 1
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT5
|
keratin 5, type II
|
|
KRT9
|
keratin 9, type I
|
|
LAMTOR5
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDLR
|
low density lipoprotein receptor
|
|
LDOC1
|
leucine zipper, down-regulated in cancer 1
|
|
LEP
|
leptin
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LHX3
|
LIM homeobox 3
|
|
LILRB2
|
leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2
|
|
LLGL1
|
lethal giant larvae homolog 1 (Drosophila)
|
|
LMNA
|
lamin A/C
|
|
LPL
|
lipoprotein lipase
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTC4S
|
leukotriene C4 synthase
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP3K9
|
mitogen-activated protein kinase kinase kinase 9
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MAPRE3
|
microtubule-associated protein, RP/EB family, member 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MC3R
|
melanocortin 3 receptor
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCPH1
|
microcephalin 1
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MIR10A
|
microRNA 10a
|
|
MIR143
|
microRNA 143
|
|
MIR17
|
microRNA 17
|
|
MIR200B
|
microRNA 200b
|
|
MIR214
|
microRNA 214
|
|
MIR29C
|
microRNA 29c
|
|
MIR34A
|
microRNA 34a
|
|
MIR34B
|
microRNA 34b
|
|
MIR421
|
microRNA 421
|
|
MIR494
|
microRNA 494
|
|
MIR93
|
microRNA 93
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MMP7
|
matrix metallopeptidase 7
|
|
MOB1A
|
MOB kinase activator 1A
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MOS
|
v-mos Moloney murine sarcoma viral oncogene homolog
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSX1
|
msh homeobox 1
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MTHFD1
|
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MTRF1
|
mitochondrial translational release factor 1
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC5AC
|
mucin 5AC, oligomeric mucus/gel-forming
|
|
MX1
|
MX dynamin-like GTPase 1
|
|
MXRA5
|
matrix-remodelling associated 5
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYL1
|
myosin, light chain 1, alkali; skeletal, fast
|
|
MYL9
|
myosin, light chain 9, regulatory
|
|
MYLK2
|
myosin light chain kinase 2
|
|
MYO18B
|
myosin XVIIIB
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOT
|
myotilin
|
|
NBN
|
nibrin
|
|
NDC1
|
NDC1 transmembrane nucleoporin
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NEK2
|
NIMA-related kinase 2
|
|
NEU2
|
sialidase 2 (cytosolic sialidase)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFATC1
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NKX3-1
|
NK3 homeobox 1
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NOTCH4
|
notch 4
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRP2
|
neuropilin 2
|
|
NRXN1
|
neurexin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUP98
|
nucleoporin 98kDa
|
|
NUTF2
|
nuclear transport factor 2
|
|
OAS1
|
2'-5'-oligoadenylate synthetase 1, 40/46kDa
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OSBPL3
|
oxysterol binding protein-like 3
|
|
PAK7
|
p21 protein (Cdc42/Rac)-activated kinase 7
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PALLD
|
palladin, cytoskeletal associated protein
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PAX5
|
paired box 5
|
|
PAX9
|
paired box 9
|
|
PBRM1
|
polybromo 1
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDPK1
|
3-phosphoinositide dependent protein kinase 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PGR
|
progesterone receptor
|
|
PHF6
|
PHD finger protein 6
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PIM1
|
Pim-1 proto-oncogene, serine/threonine kinase
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PLA2G4D
|
phospholipase A2, group IVD (cytosolic)
|
|
PLAGL1
|
pleiomorphic adenoma gene-like 1
|
|
PLCZ1
|
phospholipase C, zeta 1
|
|
PLD1
|
phospholipase D1, phosphatidylcholine-specific
|
|
PMM2
|
phosphomannomutase 2
|
|
POLH
|
polymerase (DNA directed), eta
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1CC
|
protein phosphatase 1, catalytic subunit, gamma isozyme
|
|
PPP1R13B
|
protein phosphatase 1, regulatory subunit 13B
|
|
PPP1R13L
|
protein phosphatase 1, regulatory subunit 13 like
|
|
PPP2R1A
|
protein phosphatase 2, regulatory subunit A, alpha
|
|
PPP2R5C
|
protein phosphatase 2, regulatory subunit B', gamma
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRDM5
|
PR domain containing 5
|
|
PREX2
|
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
|
|
PRKAB1
|
protein kinase, AMP-activated, beta 1 non-catalytic subunit
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSMB1
|
proteasome (prosome, macropain) subunit, beta type, 1
|
|
PSMB5
|
proteasome (prosome, macropain) subunit, beta type, 5
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTK2
|
protein tyrosine kinase 2
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RAB35
|
RAB35, member RAS oncogene family
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAC2
|
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
|
|
RAD51
|
RAD51 recombinase
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RANBP2
|
RAN binding protein 2
|
|
RASD2
|
RASD family, member 2
|
|
RB1
|
retinoblastoma 1
|
|
RB1CC1
|
RB1-inducible coiled-coil 1
|
|
RBL2
|
retinoblastoma-like 2
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RELA
|
v-rel avian reticuloendotheliosis viral oncogene homolog A
|
|
RET
|
ret proto-oncogene
|
|
RFWD2
|
ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
|
|
RFX1
|
regulatory factor X, 1 (influences HLA class II expression)
|
|
RHD
|
Rh blood group, D antigen
|
|
RHO
|
rhodopsin
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
RNF2
|
ring finger protein 2
|
|
RNF43
|
ring finger protein 43
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPL22
|
ribosomal protein L22
|
|
RPS26
|
ribosomal protein S26
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RPSA
|
ribosomal protein SA
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RUNX1T1
|
runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SAA4
|
serum amyloid A4, constitutive
|
|
SACS
|
sacsin molecular chaperone
|
|
SAV1
|
salvador family WW domain containing protein 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SBF2
|
SET binding factor 2
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SEPT4
|
septin 4
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B1
|
splicing factor 3b, subunit 1, 155kDa
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SIX5
|
SIX homeobox 5
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC24A2
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A9
|
solute carrier family 26 (anion exchanger), member 9
|
|
SLC29A1
|
solute carrier family 29 (equilibrative nucleoside transporter), member 1
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD1
|
SMAD family member 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOCS1
|
suppressor of cytokine signaling 1
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SP1
|
Sp1 transcription factor
|
|
SPAST
|
spastin
|
|
SPATA16
|
spermatogenesis associated 16
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPOP
|
speckle-type POZ protein
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
SRSF2
|
serine/arginine-rich splicing factor 2
|
|
STAG2
|
stromal antigen 2
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT6
|
signal transducer and activator of transcription 6, interleukin-4 induced
|
|
STK11
|
serine/threonine kinase 11
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SUMO2
|
small ubiquitin-like modifier 2
|
|
SUMO3
|
small ubiquitin-like modifier 3
|
|
SUPT7L
|
suppressor of Ty 7 (S. cerevisiae)-like
|
|
TAF1B
|
TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TBX3
|
T-box 3
|
|
TDH
|
L-threonine dehydrogenase (pseudogene)
|
|
TECTA
|
tectorin alpha
|
|
TEK
|
TEK tyrosine kinase, endothelial
|
|
TERC
|
telomerase RNA component
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TF
|
transferrin
|
|
TFG
|
TRK-fused gene
|
|
TG
|
thyroglobulin
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TIAL1
|
TIA1 cytotoxic granule-associated RNA binding protein-like 1
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR5
|
toll-like receptor 5
|
|
TLR7
|
toll-like receptor 7
|
|
TMEM237
|
transmembrane protein 237
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF10A
|
tumor necrosis factor receptor superfamily, member 10a
|
|
TNFRSF10B
|
tumor necrosis factor receptor superfamily, member 10b
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TNFSF10
|
tumor necrosis factor (ligand) superfamily, member 10
|
|
TOPBP1
|
topoisomerase (DNA) II binding protein 1
|
|
TP53
|
tumor protein p53
|
|
TP53BP2
|
tumor protein p53 binding protein 2
|
|
TP53INP1
|
tumor protein p53 inducible nuclear protein 1
|
|
TP63
|
tumor protein p63
|
|
TP73
|
tumor protein p73
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TPRN
|
taperin
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRIM71
|
tripartite motif containing 71, E3 ubiquitin protein ligase
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TRRAP
|
transformation/transcription domain-associated protein
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TXN
|
thioredoxin
|
|
U2AF1
|
U2 small nuclear RNA auxiliary factor 1
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VAV1
|
vav 1 guanine nucleotide exchange factor
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIM
|
vimentin
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33A
|
vacuolar protein sorting 33 homolog A (S. cerevisiae)
|
|
VPS4A
|
vacuolar protein sorting 4 homolog A (S. cerevisiae)
|
|
VPS4B
|
vacuolar protein sorting 4 homolog B (S. cerevisiae)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WFDC1
|
WAP four-disulfide core domain 1
|
|
WFDC5
|
WAP four-disulfide core domain 5
|
|
WNK4
|
WNK lysine deficient protein kinase 4
|
|
WNT3A
|
wingless-type MMTV integration site family, member 3A
|
|
WRNIP1
|
Werner helicase interacting protein 1
|
|
WT1
|
Wilms tumor 1
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XPO1
|
exportin 1
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
|
ZNF148
|
zinc finger protein 148
|
|
ZNF469
|
zinc finger protein 469
|
|
ZRSR2
|
zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2
|
