| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC4
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 4
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
AGFG1
|
ArfGAP with FG repeats 1
|
|
AGPS
|
alkylglycerone phosphate synthase
|
|
AIRE
|
autoimmune regulator
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
AMELX
|
amelogenin, X-linked
|
|
ANKRD1
|
ankyrin repeat domain 1 (cardiac muscle)
|
|
ANO10
|
anoctamin 10
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APOA1
|
apolipoprotein A-I
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AQP7
|
aquaporin 7
|
|
AR
|
androgen receptor
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
ATXN3
|
ataxin 3
|
|
AVP
|
arginine vasopressin
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLMH
|
bleomycin hydrolase
|
|
BMP5
|
bone morphogenetic protein 5
|
|
BMP7
|
bone morphogenetic protein 7
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTG3
|
BTG family, member 3
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C6
|
complement component 6
|
|
C7
|
complement component 7
|
|
CAMK2G
|
calcium/calmodulin-dependent protein kinase II gamma
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CBX3
|
chromobox homolog 3
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCNA2
|
cyclin A2
|
|
CCR7
|
chemokine (C-C motif) receptor 7
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CD19
|
CD19 molecule
|
|
CD22
|
CD22 molecule
|
|
CD247
|
CD247 molecule
|
|
CD274
|
CD274 molecule
|
|
CD28
|
CD28 molecule
|
|
CD320
|
CD320 molecule
|
|
CD3D
|
CD3d molecule, delta (CD3-TCR complex)
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CD55
|
CD55 molecule, decay accelerating factor for complement (Cromer blood group)
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CD70
|
CD70 molecule
|
|
CD81
|
CD81 molecule
|
|
CD86
|
CD86 molecule
|
|
CDK2
|
cyclin-dependent kinase 2
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDSN
|
corneodesmosin
|
|
CFH
|
complement factor H
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK1
|
checkpoint kinase 1
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHUK
|
conserved helix-loop-helix ubiquitous kinase
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CISH
|
cytokine inducible SH2-containing protein
|
|
CLCA1
|
chloride channel accessory 1
|
|
CLCA4
|
chloride channel accessory 4
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNOT8
|
CCR4-NOT transcription complex, subunit 8
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
CORO1A
|
coronin, actin binding protein, 1A
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CPSF4
|
cleavage and polyadenylation specific factor 4, 30kDa
|
|
CREBBP
|
CREB binding protein
|
|
CRELD1
|
cysteine-rich with EGF-like domains 1
|
|
CSF2RA
|
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSH
|
cathepsin H
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2J2
|
cytochrome P450, family 2, subfamily J, polypeptide 2
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DAPK2
|
death-associated protein kinase 2
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCX
|
doublecortin
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DEFB103B
|
defensin, beta 103B
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLG1
|
discs, large homolog 1 (Drosophila)
|
|
DLL1
|
delta-like 1 (Drosophila)
|
|
DLX3
|
distal-less homeobox 3
|
|
DMD
|
dystrophin
|
|
DNM1L
|
dynamin 1-like
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOLK
|
dolichol kinase
|
|
DPCD
|
deleted in primary ciliary dyskinesia homolog (mouse)
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DPYSL2
|
dihydropyrimidinase-like 2
|
|
DSG1
|
desmoglein 1
|
|
DST
|
dystonin
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DUOX2
|
dual oxidase 2
|
|
EDA
|
ectodysplasin A
|
|
EDN1
|
endothelin 1
|
|
EFNA2
|
ephrin-A2
|
|
EGF
|
epidermal growth factor
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGR1
|
early growth response 1
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ELN
|
elastin
|
|
EN2
|
engrailed homeobox 2
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
F10
|
coagulation factor X
|
|
F11
|
coagulation factor XI
|
|
F2
|
coagulation factor II (thrombin)
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FBN1
|
fibrillin 1
|
|
FBXO6
|
F-box protein 6
|
|
FEM1A
|
fem-1 homolog a (C. elegans)
|
|
FERMT3
|
fermitin family member 3
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF7
|
fibroblast growth factor 7
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP1B
|
FK506 binding protein 1B, 12.6 kDa
|
|
FKRP
|
fukutin related protein
|
|
FLG
|
filaggrin
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FNBP1L
|
formin binding protein 1-like
|
|
FOLH1
|
folate hydrolase (prostate-specific membrane antigen) 1
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXC2
|
forkhead box C2
|
|
FSHMD1A
|
facioscapulohumeral muscular dystrophy 1A
|
|
FTO
|
fat mass and obesity associated
|
|
FXN
|
frataxin
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GAB1
|
GRB2-associated binding protein 1
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GABRE
|
gamma-aminobutyric acid (GABA) A receptor, epsilon
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GCG
|
glucagon
|
|
GCLM
|
glutamate-cysteine ligase, modifier subunit
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
GRIA2
|
glutamate receptor, ionotropic, AMPA 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRM3
|
glutamate receptor, metabotropic 3
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
HAVCR2
|
hepatitis A virus cellular receptor 2
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HCK
|
HCK proto-oncogene, Src family tyrosine kinase
|
|
HDAC7
|
histone deacetylase 7
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGA1
|
high mobility group AT-hook 1
|
|
HMGB1
|
high mobility group box 1
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HORMAD1
|
HORMA domain containing 1
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPX
|
hemopexin
|
|
HRNR
|
hornerin
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPA4L
|
heat shock 70kDa protein 4-like
|
|
HTT
|
huntingtin
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
ICOSLG
|
inducible T-cell co-stimulator ligand
|
|
IDE
|
insulin-degrading enzyme
|
|
IFNB1
|
interferon, beta 1, fibroblast
|
|
IFNG
|
interferon, gamma
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IGFBP3
|
insulin-like growth factor binding protein 3
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IL10
|
interleukin 10
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL11
|
interleukin 11
|
|
IL17A
|
interleukin 17A
|
|
IL18
|
interleukin 18
|
|
IL18RAP
|
interleukin 18 receptor accessory protein
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1R2
|
interleukin 1 receptor, type II
|
|
IL22
|
interleukin 22
|
|
IL7R
|
interleukin 7 receptor
|
|
INPP5B
|
inositol polyphosphate-5-phosphatase, 75kDa
|
|
INS
|
insulin
|
|
IRAK4
|
interleukin-1 receptor-associated kinase 4
|
|
IRF3
|
interferon regulatory factor 3
|
|
IRX4
|
iroquois homeobox 4
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGAV
|
integrin, alpha V
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAK1
|
Janus kinase 1
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KDR
|
kinase insert domain receptor
|
|
KIF21A
|
kinesin family member 21A
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KLK4
|
kallikrein-related peptidase 4
|
|
KLRK1
|
killer cell lectin-like receptor subfamily K, member 1
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRT1
|
keratin 1, type II
|
|
LAMA5
|
laminin, alpha 5
|
|
LAMB1
|
laminin, beta 1
|
|
LAMC1
|
laminin, gamma 1 (formerly LAMB2)
|
|
LAMP1
|
lysosomal-associated membrane protein 1
|
|
LAMP3
|
lysosomal-associated membrane protein 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LIF
|
leukemia inhibitory factor
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIPH
|
lipase, member H
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNA
|
lamin A/C
|
|
LMO2
|
LIM domain only 2 (rhombotin-like 1)
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MAD2L1
|
MAD2 mitotic arrest deficient-like 1 (yeast)
|
|
MAGEA11
|
melanoma antigen family A11
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAP3K3
|
mitogen-activated protein kinase kinase kinase 3
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MCFD2
|
multiple coagulation factor deficiency 2
|
|
MEFV
|
Mediterranean fever
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MIR155
|
microRNA 155
|
|
MIR34B
|
microRNA 34b
|
|
MIR34C
|
microRNA 34c
|
|
MKI67
|
marker of proliferation Ki-67
|
|
MLPH
|
melanophilin
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP20
|
matrix metallopeptidase 20
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MOSPD3
|
motile sperm domain containing 3
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-TL1
|
tRNA
|
|
MTHFD1
|
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC5AC
|
mucin 5AC, oligomeric mucus/gel-forming
|
|
MUC5B
|
mucin 5B, oligomeric mucus/gel-forming
|
|
MUTYH
|
mutY homolog
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
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
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOCD
|
myocardin
|
|
N6AMT1
|
N-6 adenine-specific DNA methyltransferase 1 (putative)
|
|
NADK2
|
NAD kinase 2, mitochondrial
|
|
NAPSA
|
napsin A aspartic peptidase
|
|
NBN
|
nibrin
|
|
NCR1
|
natural cytotoxicity triggering receptor 1
|
|
NCR3
|
natural cytotoxicity triggering receptor 3
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFATC1
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NODAL
|
nodal growth differentiation factor
|
|
NOTCH1
|
notch 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPPA
|
natriuretic peptide A
|
|
NPPB
|
natriuretic peptide B
|
|
NPY
|
neuropeptide Y
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NTF4
|
neurotrophin 4
|
|
NTRK3
|
neurotrophic tyrosine kinase, receptor, type 3
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPHN1
|
oligophrenin 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1SW
|
opsin 1 (cone pigments), short-wave-sensitive
|
|
P2RY12
|
purinergic receptor P2Y, G-protein coupled, 12
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PASK
|
PAS domain containing serine/threonine kinase
|
|
PAX3
|
paired box 3
|
|
PAX4
|
paired box 4
|
|
PCBD1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
|
|
PCDH1
|
protocadherin 1
|
|
PDCD1
|
programmed cell death 1
|
|
PDIA3
|
protein disulfide isomerase family A, member 3
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PEA15
|
phosphoprotein enriched in astrocytes 15
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PHLPP1
|
PH domain and leucine rich repeat protein phosphatase 1
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PLAUR
|
plasminogen activator, urokinase receptor
|
|
PLSCR1
|
phospholipid scramblase 1
|
|
PMEL
|
premelanosome protein
|
|
POC1B
|
POC1 centriolar protein B
|
|
POLR2A
|
polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POSTN
|
periostin, osteoblast specific factor
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRDM1
|
PR domain containing 1, with ZNF domain
|
|
PRKACG
|
protein kinase, cAMP-dependent, catalytic, gamma
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PSEN1
|
presenilin 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTK2
|
protein tyrosine kinase 2
|
|
PTPN1
|
protein tyrosine phosphatase, non-receptor type 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAD51
|
RAD51 recombinase
|
|
RAP1A
|
RAP1A, member of RAS oncogene family
|
|
RASGRF1
|
Ras protein-specific guanine nucleotide-releasing factor 1
|
|
RB1
|
retinoblastoma 1
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RELN
|
reelin
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
ROCK1
|
Rho-associated, coiled-coil containing protein kinase 1
|
|
ROS1
|
ROS proto-oncogene 1 , receptor tyrosine kinase
|
|
RPA1
|
replication protein A1, 70kDa
|
|
RPA2
|
replication protein A2, 32kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPS14
|
ribosomal protein S14
|
|
RPS19
|
ribosomal protein S19
|
|
RPS6KB1
|
ribosomal protein S6 kinase, 70kDa, polypeptide 1
|
|
RTN4
|
reticulon 4
|
|
RUNX1T1
|
runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SETX
|
senataxin
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHOX
|
short stature homeobox
|
|
SIRT1
|
sirtuin 1
|
|
SLC11A2
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
|
|
SLC19A1
|
solute carrier family 19 (folate transporter), member 1
|
|
SLC1A5
|
solute carrier family 1 (neutral amino acid transporter), member 5
|
|
SLC2A4
|
solute carrier family 2 (facilitated glucose transporter), member 4
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNORD115-1
|
small nucleolar RNA, C/D box 115-1
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOCS2
|
suppressor of cytokine signaling 2
|
|
SOCS3
|
suppressor of cytokine signaling 3
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORT1
|
sortilin 1
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPATA16
|
spermatogenesis associated 16
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT2
|
signal transducer and activator of transcription 2, 113kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT5A
|
signal transducer and activator of transcription 5A
|
|
STK11
|
serine/threonine kinase 11
|
|
STX11
|
syntaxin 11
|
|
STX16
|
syntaxin 16
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STXBP2
|
syntaxin binding protein 2
|
|
SYT13
|
synaptotagmin XIII
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX20
|
T-box 20
|
|
TBX21
|
T-box 21
|
|
TBX5
|
T-box 5
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TCTE3
|
t-complex-associated-testis-expressed 3
|
|
TERF1
|
telomeric repeat binding factor (NIMA-interacting) 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TINAG
|
tubulointerstitial nephritis antigen
|
|
TIRAP
|
toll-interleukin 1 receptor (TIR) domain containing adaptor protein
|
|
TK1
|
thymidine kinase 1, soluble
|
|
TLL1
|
tolloid-like 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR9
|
toll-like receptor 9
|
|
TMEM70
|
transmembrane protein 70
|
|
TNF
|
tumor necrosis factor
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TPO
|
thyroid peroxidase
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TYMS
|
thymidylate synthetase
|
|
TYR
|
tyrosinase
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBB
|
ubiquitin B
|
|
UMOD
|
uromodulin
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
USF2
|
upstream transcription factor 2, c-fos interacting
|
|
USP26
|
ubiquitin specific peptidase 26
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
VSX1
|
visual system homeobox 1
|
|
VTN
|
vitronectin
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XRCC4
|
X-ray repair complementing defective repair in Chinese hamster cells 4
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZIC3
|
Zic family member 3
|
