| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCA5
|
ATP-binding cassette, sub-family A (ABC1), member 5
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABI1
|
abl-interactor 1
|
|
ACD
|
adrenocortical dysplasia homolog (mouse)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACE2
|
angiotensin I converting enzyme 2
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACTN4
|
actinin, alpha 4
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
AGA
|
aspartylglucosaminidase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGRN
|
agrin
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AGTR2
|
angiotensin II receptor, type 2
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALB
|
albumin
|
|
ALDH1A2
|
aldehyde dehydrogenase 1 family, member A2
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALG12
|
ALG12, alpha-1,6-mannosyltransferase
|
|
ALG14
|
ALG14, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
ANGPT2
|
angiopoietin 2
|
|
ANKRD1
|
ankyrin repeat domain 1 (cardiac muscle)
|
|
ANOS1
|
anosmin 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AR
|
androgen receptor
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BFSP1
|
beaded filament structural protein 1, filensin
|
|
BFSP2
|
beaded filament structural protein 2, phakinin
|
|
BHLHE23
|
basic helix-loop-helix family, member e23
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMP6
|
bone morphogenetic protein 6
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
CA8
|
carbonic anhydrase VIII
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CALR
|
calreticulin
|
|
CAMP
|
cathelicidin antimicrobial peptide
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CBX5
|
chromobox homolog 5
|
|
CCDC78
|
coiled-coil domain containing 78
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCNO
|
cyclin O
|
|
CDAN1
|
codanin 1
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERS3
|
ceramide synthase 3
|
|
CFC1
|
cripto, FRL-1, cryptic family 1
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CGB
|
chorionic gonadotropin, beta polypeptide
|
|
CHD1L
|
chromodomain helicase DNA binding protein 1-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHED1
|
corneal endothelial dystrophy 1 (autosomal dominant)
|
|
CHKB
|
choline kinase beta
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHN1
|
chimerin 1
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
CLMP
|
CXADR-like membrane protein
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
CMD1B
|
cardiomyopathy, dilated 1B (autosomal dominant)
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNTN1
|
contactin 1
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL25A1
|
collagen, type XXV, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRB2
|
crumbs family member 2
|
|
CRELD1
|
cysteine-rich with EGF-like domains 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRX
|
cone-rod homeobox
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBA1
|
crystallin, beta A1
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYBB3
|
crystallin, beta B3
|
|
CRYGB
|
crystallin, gamma B
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CRYGS
|
crystallin, gamma S
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CST3
|
cystatin C
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTF1
|
cardiotrophin 1
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A1P
|
cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCN
|
decorin
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DEL9P
|
Chromosome 9p deletion syndrome
|
|
DFNA52
|
deafness, autosomal dominant 52
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DGAT1
|
diacylglycerol O-acyltransferase 1
|
|
DISP1
|
dispatched homolog 1 (Drosophila)
|
|
DLC1
|
DLC1 Rho GTPase activating protein
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DMBX1
|
diencephalon/mesencephalon homeobox 1
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DSTYK
|
dual serine/threonine and tyrosine protein kinase
|
|
DTNA
|
dystrobrevin, alpha
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DYNC1I1
|
dynein, cytoplasmic 1, intermediate chain 1
|
|
DYSF
|
dysferlin
|
|
ECE1
|
endothelin converting enzyme 1
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EDA
|
ectodysplasin A
|
|
EDN1
|
endothelin 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EDNRB
|
endothelin receptor type B
|
|
EFNB1
|
ephrin-B1
|
|
EFNB2
|
ephrin-B2
|
|
EGF
|
epidermal growth factor
|
|
EGFR
|
epidermal growth factor receptor
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EML4
|
echinoderm microtubule associated protein like 4
|
|
ENO2
|
enolase 2 (gamma, neuronal)
|
|
EP300
|
E1A binding protein p300
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPHA2
|
EPH receptor A2
|
|
EPHB2
|
EPH receptor B2
|
|
EPO
|
erythropoietin
|
|
EPOR
|
erythropoietin receptor
|
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ESPN
|
espin
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F10
|
coagulation factor X
|
|
F11
|
coagulation factor XI
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F13B
|
coagulation factor XIII, B polypeptide
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FABP3
|
fatty acid binding protein 3, muscle and heart
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF13
|
fibroblast growth factor 13
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXE1
|
forkhead box E1
|
|
FOXE3
|
forkhead box E3
|
|
FOXG1
|
forkhead box G1
|
|
FOXN1
|
forkhead box N1
|
|
FOXP1
|
forkhead box P1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FRMD7
|
FERM domain containing 7
|
|
FTH1
|
ferritin, heavy polypeptide 1
|
|
FYCO1
|
FYVE and coiled-coil domain containing 1
|
|
FZD3
|
frizzled class receptor 3
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GABPA
|
GA binding protein transcription factor, alpha subunit 60kDa
|
|
GALK1
|
galactokinase 1
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GANC
|
glucosidase, alpha; neutral C
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GCNT2
|
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
|
|
GDF1
|
growth differentiation factor 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GIPC3
|
GIPC PDZ domain containing family, member 3
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLC3C
|
glaucoma 3, primary congenital, C
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GTF2H4
|
general transcription factor IIH, polypeptide 4, 52kDa
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HAND1
|
heart and neural crest derivatives expressed 1
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HMOX1
|
heme oxygenase 1
|
|
HMX2
|
H6 family homeobox 2
|
|
HMX3
|
H6 family homeobox 3
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HOXA10
|
homeobox A10
|
|
HOXA11
|
homeobox A11
|
|
HOXC5
|
homeobox C5
|
|
HOXC9
|
homeobox C9
|
|
HOXD10
|
homeobox D10
|
|
HOXD11
|
homeobox D11
|
|
HOXD12
|
homeobox D12
|
|
HOXD13
|
homeobox D13
|
|
HP
|
haptoglobin
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HR
|
hair growth associated
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD3B1
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
|
HSF4
|
heat shock transcription factor 4
|
|
HTR4
|
5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IFNG
|
interferon, gamma
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IGFBP3
|
insulin-like growth factor binding protein 3
|
|
IHH
|
indian hedgehog
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL6
|
interleukin 6
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
IQCB1
|
IQ motif containing B1
|
|
IRAK4
|
interleukin-1 receptor-associated kinase 4
|
|
IRX4
|
iroquois homeobox 4
|
|
ISL1
|
ISL LIM homeobox 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA2
|
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGA7
|
integrin, alpha 7
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAG1
|
jagged 1
|
|
JARID2
|
jumonji, AT rich interactive domain 2
|
|
KANK1
|
KN motif and ankyrin repeat domains 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIF21A
|
kinesin family member 21A
|
|
KIF23
|
kinesin family member 23
|
|
KISS1R
|
KISS1 receptor
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
KRT10
|
keratin 10, type I
|
|
KRT20
|
keratin 20, type I
|
|
KRT86
|
keratin 86, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LBH
|
limb bud and heart development
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LCT
|
lactase
|
|
LEF1
|
lymphoid enhancer-binding factor 1
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LHX4
|
LIM homeobox 4
|
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
|
LMNA
|
lamin A/C
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
LTBP1
|
latent transforming growth factor beta binding protein 1
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MASTL
|
microtubule associated serine/threonine kinase-like
|
|
MBNL1
|
muscleblind-like splicing regulator 1
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MESP1
|
mesoderm posterior basic helix-loop-helix transcription factor 1
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MIR10A
|
microRNA 10a
|
|
MIR10B
|
microRNA 10b
|
|
MIR143
|
microRNA 143
|
|
MIR218-1
|
microRNA 218-1
|
|
MIR34B
|
microRNA 34b
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPDZ
|
multiple PDZ domain protein
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPZ
|
myelin protein zero
|
|
MSTN
|
myostatin
|
|
MTHFD1
|
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTMR1
|
myotubularin related protein 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC5AC
|
mucin 5AC, oligomeric mucus/gel-forming
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH7B
|
myosin, heavy chain 7B, cardiac muscle, beta
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEUROG1
|
neurogenin 1
|
|
NEUROG3
|
neurogenin 3
|
|
NF1
|
neurofibromin 1
|
|
NFATC1
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NODAL
|
nodal growth differentiation factor
|
|
NOG
|
noggin
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPPA
|
natriuretic peptide A
|
|
NPPB
|
natriuretic peptide B
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
NTN1
|
netrin 1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NUB1
|
negative regulator of ubiquitin-like proteins 1
|
|
NXNL1
|
nucleoredoxin-like 1
|
|
NYX
|
nyctalopin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PAX9
|
paired box 9
|
|
PBX3
|
pre-B-cell leukemia homeobox 3
|
|
PCNT
|
pericentrin
|
|
PDC
|
phosducin
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
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)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PITX3
|
paired-like homeodomain 3
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PKP2
|
plakophilin 2
|
|
PLAGL1
|
pleiomorphic adenoma gene-like 1
|
|
PLEC
|
plectin
|
|
PLG
|
plasminogen
|
|
PLN
|
phospholamban
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLXNA2
|
plexin A2
|
|
PMM1
|
phosphomannomutase 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PNLIP
|
pancreatic lipase
|
|
PNPLA1
|
patatin-like phospholipase domain containing 1
|
|
POMC
|
proopiomelanocortin
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRL
|
prolactin
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTCH2
|
patched 2
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PXDN
|
peroxidasin
|
|
RAD51
|
RAD51 recombinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM10
|
RNA binding motif protein 10
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RET
|
ret proto-oncogene
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RGS6
|
regulator of G-protein signaling 6
|
|
RHO
|
rhodopsin
|
|
RIPK3
|
receptor-interacting serine-threonine kinase 3
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RS1
|
retinoschisin 1
|
|
RSPO1
|
R-spondin 1
|
|
RSPO4
|
R-spondin 4
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SEMA3C
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
|
|
SENP2
|
SUMO1/sentrin/SMT3 specific peptidase 2
|
|
SERPINB2
|
serpin peptidase inhibitor, clade B (ovalbumin), member 2
|
|
SFTPB
|
surfactant protein B
|
|
SHH
|
sonic hedgehog
|
|
SHOX
|
short stature homeobox
|
|
SI
|
sucrase-isomaltase (alpha-glucosidase)
|
|
SIM2
|
single-minded family bHLH transcription factor 2
|
|
SIX2
|
SIX homeobox 2
|
|
SIX6
|
SIX homeobox 6
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC24A1
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
|
|
SLC25A38
|
solute carrier family 25, member 38
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC27A4
|
solute carrier family 27 (fatty acid transporter), member 4
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC9A3
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
|
|
SLC9A8
|
solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
|
|
SLN
|
sarcolipin
|
|
SMAD2
|
SMAD family member 2
|
|
SMAD6
|
SMAD family member 6
|
|
SMAD7
|
SMAD family member 7
|
|
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
|
|
SMG8
|
SMG8 nonsense mediated mRNA decay factor
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNTB2
|
syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPINT2
|
serine peptidase inhibitor, Kunitz type, 2
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SSPN
|
sarcospan
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
STIM1
|
stromal interaction molecule 1
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
TBX19
|
T-box 19
|
|
TBX2
|
T-box 2
|
|
TBX20
|
T-box 20
|
|
TBX4
|
T-box 4
|
|
TBX5
|
T-box 5
|
|
TBX6
|
T-box 6
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TFRC
|
transferrin receptor
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGM1
|
transglutaminase 1
|
|
THBD
|
thrombomodulin
|
|
THPO
|
thrombopoietin
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLL1
|
tolloid-like 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR3
|
toll-like receptor 3
|
|
TLR7
|
toll-like receptor 7
|
|
TLX3
|
T-cell leukemia homeobox 3
|
|
TMEM121
|
transmembrane protein 121
|
|
TMEM165
|
transmembrane protein 165
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNF
|
tumor necrosis factor
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TPO
|
thyroid peroxidase
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM11
|
tripartite motif containing 11
|
|
TRIM21
|
tripartite motif containing 21
|
|
TROVE2
|
TROVE domain family, member 2
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TRPM8
|
transient receptor potential cation channel, subfamily M, member 8
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV2
|
transient receptor potential cation channel, subfamily V, member 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSHZ1
|
teashirt zinc finger homeobox 1
|
|
TUBB1
|
tubulin, beta 1 class VI
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TULP1
|
tubby like protein 1
|
|
TYMS
|
thymidylate synthetase
|
|
TYR
|
tyrosinase
|
|
UBD
|
ubiquitin D
|
|
UMOD
|
uromodulin
|
|
UNC93B1
|
unc-93 homolog B1 (C. elegans)
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
UTS2
|
urotensin 2
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VSX2
|
visual system homeobox 2
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR36
|
WD repeat domain 36
|
|
WNT3A
|
wingless-type MMTV integration site family, member 3A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WT1
|
Wilms tumor 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFHX4
|
zinc finger homeobox 4
|
|
ZIC3
|
Zic family member 3
|
