| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
AARS
|
alanyl-tRNA synthetase
|
|
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
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
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
|
|
ABO
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
|
|
ACAN
|
aggrecan
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACP1
|
acid phosphatase 1, soluble
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTN4
|
actinin, alpha 4
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADH1B
|
alcohol dehydrogenase 1B (class I), beta polypeptide
|
|
ADRB1
|
adrenoceptor beta 1
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
ADRB3
|
adrenoceptor beta 3
|
|
ADRBK1
|
adrenergic, beta, receptor kinase 1
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGRP
|
agouti related neuropeptide
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIRE
|
autoimmune regulator
|
|
ALB
|
albumin
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOX15
|
arachidonate 15-lipoxygenase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX4
|
ALX homeobox 4
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
ANGPTL3
|
angiopoietin-like 3
|
|
ANK2
|
ankyrin 2, neuronal
|
|
ANO5
|
anoctamin 5
|
|
ANOS1
|
anosmin 1
|
|
ANXA5
|
annexin A5
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
APOA5
|
apolipoprotein A-V
|
|
APOB
|
apolipoprotein B
|
|
APOC3
|
apolipoprotein C-III
|
|
APOE
|
apolipoprotein E
|
|
APOL1
|
apolipoprotein L, 1
|
|
APOM
|
apolipoprotein M
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AQP4
|
aquaporin 4
|
|
AR
|
androgen receptor
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARHGEF28
|
Rho guanine nucleotide exchange factor (GEF) 28
|
|
ARL11
|
ADP-ribosylation factor-like 11
|
|
ARX
|
aristaless related homeobox
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
AURKC
|
aurora kinase C
|
|
AVP
|
arginine vasopressin
|
|
AXIN2
|
axin 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BEST1
|
bestrophin 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRMS1
|
breast cancer metastasis suppressor 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C3
|
complement component 3
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CAMK2A
|
calcium/calmodulin-dependent protein kinase II alpha
|
|
CAPN3
|
calpain 3, (p94)
|
|
CARD14
|
caspase recruitment domain family, member 14
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASP5
|
caspase 5, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CAV3
|
caveolin 3
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCL20
|
chemokine (C-C motif) ligand 20
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD19
|
CD19 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFC1
|
cripto, FRL-1, cryptic family 1
|
|
CFH
|
complement factor H
|
|
CFHR1
|
complement factor H-related 1
|
|
CFHR2
|
complement factor H-related 2
|
|
CFHR3
|
complement factor H-related 3
|
|
CFHR5
|
complement factor H-related 5
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CHKB
|
choline kinase beta
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CHN2
|
chimerin 2
|
|
CHRNA5
|
cholinergic receptor, nicotinic, alpha 5 (neuronal)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN16
|
claudin 16
|
|
CLEC4M
|
C-type lectin domain family 4, member M
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLU
|
clusterin
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMMD1
|
copper metabolism (Murr1) domain containing 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COMT
|
catechol-O-methyltransferase
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPT1B
|
carnitine palmitoyltransferase 1B (muscle)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYGD
|
crystallin, gamma D
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTRC
|
chymotrypsin C (caldecrin)
|
|
CTSA
|
cathepsin A
|
|
CTSC
|
cathepsin C
|
|
CTSF
|
cathepsin F
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2A6
|
cytochrome P450, family 2, subfamily A, polypeptide 6
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C8
|
cytochrome P450, family 2, subfamily C, polypeptide 8
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
CYP3A
|
cytochrome P450, family 3, subfamily A
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCTN1
|
dynactin 1
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DDHD2
|
DDHD domain containing 2
|
|
DES
|
desmin
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DIO2
|
deiodinase, iodothyronine, type II
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNM2
|
dynamin 2
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPY30
|
dpy-30 homolog (C. elegans)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
DSG2
|
desmoglein 2
|
|
DSP
|
desmoplakin
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DUOX2
|
dual oxidase 2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDN1
|
endothelin 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGR2
|
early growth response 2
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ELN
|
elastin
|
|
ENAM
|
enamelin
|
|
ENPP2
|
ectonucleotide pyrophosphatase/phosphodiesterase 2
|
|
EP300
|
E1A binding protein p300
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPOR
|
erythropoietin receptor
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F10
|
coagulation factor X
|
|
F11
|
coagulation factor XI
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLG
|
filaggrin
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXF1
|
forkhead box F1
|
|
FOXG1
|
forkhead box G1
|
|
FOXL2
|
forkhead box L2
|
|
FOXP1
|
forkhead box P1
|
|
FOXP2
|
forkhead box P2
|
|
FOXP3
|
forkhead box P3
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FTL
|
ferritin, light polypeptide
|
|
FUS
|
FUS RNA binding protein
|
|
FUT2
|
fucosyltransferase 2 (secretor status included)
|
|
FXN
|
frataxin
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABBR1
|
gamma-aminobutyric acid (GABA) B receptor, 1
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GALC
|
galactosylceramidase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GAN
|
gigaxonin
|
|
GAR1
|
GAR1 ribonucleoprotein
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATA2
|
GATA binding protein 2
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF1
|
growth differentiation factor 1
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
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
|
|
GJC3
|
gap junction protein, gamma 3, 30.2kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GPX1
|
glutathione peroxidase 1
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GRN
|
granulin
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
GSN
|
gelsolin
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GUCY2C
|
guanylate cyclase 2C
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYG1
|
glycogenin 1
|
|
GYPA
|
glycophorin A (MNS blood group)
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBD
|
hemoglobin, delta
|
|
HBE1
|
hemoglobin, epsilon 1
|
|
HBG2
|
hemoglobin, gamma G
|
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
HESX1
|
HESX homeobox 1
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HFM1
|
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMX3
|
H6 family homeobox 3
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HOMEZ
|
homeobox and leucine zipper encoding
|
|
HOXD13
|
homeobox D13
|
|
HP
|
haptoglobin
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HR
|
hair growth associated
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HRG
|
histidine-rich glycoprotein
|
|
HSD11B1
|
hydroxysteroid (11-beta) dehydrogenase 1
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTT
|
huntingtin
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFITM5
|
interferon induced transmembrane protein 5
|
|
IFNGR1
|
interferon gamma receptor 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IHH
|
indian hedgehog
|
|
IL10
|
interleukin 10
|
|
IL17A
|
interleukin 17A
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL2
|
interleukin 2
|
|
IL23A
|
interleukin 23, alpha subunit p19
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRAK1
|
interleukin-1 receptor-associated kinase 1
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRS1
|
insulin receptor substrate 1
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAK1
|
Janus kinase 1
|
|
JAK2
|
Janus kinase 2
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ3
|
potassium channel, inwardly rectifying subfamily J, member 3
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KIF11
|
kinesin family member 11
|
|
KIF21A
|
kinesin family member 21A
|
|
KIR2DS1
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
|
|
KIR2DS4
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
|
|
KIR3DL1
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
|
|
KIR3DS1
|
killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KL
|
klotho
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KMT2C
|
lysine (K)-specific methyltransferase 2C
|
|
KPNA7
|
karyopherin alpha 7 (importin alpha 8)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT12
|
keratin 12, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT4
|
keratin 4, type II
|
|
KRT5
|
keratin 5, type II
|
|
KRT71
|
keratin 71, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT9
|
keratin 9, type I
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMA3
|
laminin, alpha 3
|
|
LDLR
|
low density lipoprotein receptor
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LEMD3
|
LEM domain containing 3
|
|
LEP
|
leptin
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LHX4
|
LIM homeobox 4
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMBR1
|
limb development membrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LOR
|
loricrin
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
LPIN3
|
lipin 3
|
|
LPL
|
lipoprotein lipase
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTA
|
lymphotoxin alpha
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MC4R
|
melanocortin 4 receptor
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MFN2
|
mitofusin 2
|
|
MFRP
|
membrane frizzled-related protein
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR184
|
microRNA 184
|
|
MIR196A2
|
microRNA 196a-2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLH1
|
mutL homolog 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPZ
|
myelin protein zero
|
|
MPZL3
|
myelin protein zero-like 3
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUTYH
|
mutY homolog
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYLK
|
myosin light chain kinase
|
|
MYO15A
|
myosin XVA
|
|
MYO1C
|
myosin IC
|
|
MYO1F
|
myosin IF
|
|
MYO7A
|
myosin VIIA
|
|
MYO9B
|
myosin IXB
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAGK
|
N-acetylglucosamine kinase
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NBN
|
nibrin
|
|
NCSTN
|
nicastrin
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NEB
|
nebulin
|
|
NEUROG2
|
neurogenin 2
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NLRP7
|
NLR family, pyrin domain containing 7
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOG
|
noggin
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPPA
|
natriuretic peptide A
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NQO1
|
NAD(P)H dehydrogenase, quinone 1
|
|
NR1H4
|
nuclear receptor subfamily 1, group H, member 4
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NR4A2
|
nuclear receptor subfamily 4, group A, member 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRXN1
|
neurexin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NTF4
|
neurotrophin 4
|
|
NTM
|
neurotrimin
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
OCA2
|
oculocutaneous albinism II
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OLR1
|
oxidized low density lipoprotein (lectin-like) receptor 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPCML
|
opioid binding protein/cell adhesion molecule-like
|
|
OPN3
|
opsin 3
|
|
OPRM1
|
opioid receptor, mu 1
|
|
OPTN
|
optineurin
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
OSMR
|
oncostatin M receptor
|
|
OTX2
|
orthodenticle homeobox 2
|
|
OXTR
|
oxytocin receptor
|
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
|
P2RY12
|
purinergic receptor P2Y, G-protein coupled, 12
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PALLD
|
palladin, cytoskeletal associated protein
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PCDH19
|
protocadherin 19
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PITX3
|
paired-like homeodomain 3
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PKP2
|
plakophilin 2
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLEKHM1
|
pleckstrin homology domain containing, family M (with RUN domain) member 1
|
|
PLIN1
|
perilipin 1
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PMM1
|
phosphomannomutase 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMC
|
proopiomelanocortin
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PPP2R1A
|
protein phosphatase 2, regulatory subunit A, alpha
|
|
PRB4
|
proline-rich protein BstNI subfamily 4
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRLR
|
prolactin receptor
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PSEN1
|
presenilin 1
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS1
|
prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN1
|
protein tyrosine phosphatase, non-receptor type 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN2
|
protein tyrosine phosphatase, non-receptor type 2
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RB1
|
retinoblastoma 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM20
|
RNA binding motif protein 20
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP1
|
receptor accessory protein 1
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
RHCE
|
Rh blood group, CcEe antigens
|
|
RHD
|
Rh blood group, D antigen
|
|
RHO
|
rhodopsin
|
|
RLN1
|
relaxin 1
|
|
RLS4
|
Restless legs syndrome 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEL
|
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SBF1
|
SET binding factor 1
|
|
SCARB1
|
scavenger receptor class B, member 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3B
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
|
|
SEMA7A
|
semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINA5
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
|
|
SERPINA6
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SERPINF1
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SETD2
|
SET domain containing 2
|
|
SFTPC
|
surfactant protein C
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SHH
|
sonic hedgehog
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A1
|
solute carrier family 19 (folate transporter), member 1
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC29A1
|
solute carrier family 29 (equilibrative nucleoside transporter), member 1
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC30A2
|
solute carrier family 30 (zinc transporter), member 2
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC47A1
|
solute carrier family 47 (multidrug and toxin extrusion), member 1
|
|
SLC47A2
|
solute carrier family 47 (multidrug and toxin extrusion), member 2
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMC2
|
structural maintenance of chromosomes 2
|
|
SMC4
|
structural maintenance of chromosomes 4
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMUG1
|
single-strand-selective monofunctional uracil-DNA glycosylase 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAG16
|
sperm associated antigen 16
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPI1
|
Spi-1 proto-oncogene
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPTA1
|
spectrin, alpha, erythrocytic 1
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN1
|
spectrin, beta, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRP72
|
signal recognition particle 72kDa
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STIM1
|
stromal interaction molecule 1
|
|
SURF1
|
surfeit 1
|
|
SYCP3
|
synaptonemal complex protein 3
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
SYNPO
|
synaptopodin
|
|
TACR3
|
tachykinin receptor 3
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TAL1
|
T-cell acute lymphocytic leukemia 1
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAT
|
tyrosine aminotransferase
|
|
TAZ
|
tafazzin
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBX20
|
T-box 20
|
|
TBXA2R
|
thromboxane A2 receptor
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TECTA
|
tectorin alpha
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TGM1
|
transglutaminase 1
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TIRAP
|
toll-interleukin 1 receptor (TIR) domain containing adaptor protein
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR1
|
toll-like receptor 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TLR5
|
toll-like receptor 5
|
|
TLR9
|
toll-like receptor 9
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TMPRSS6
|
transmembrane protease, serine 6
|
|
TNF
|
tumor necrosis factor
|
|
TNFAIP3
|
tumor necrosis factor, alpha-induced protein 3
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TNFSF13B
|
tumor necrosis factor (ligand) superfamily, member 13b
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TP73
|
tumor protein p73
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TPMT
|
thiopurine S-methyltransferase
|
|
TPO
|
thyroid peroxidase
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPAN12
|
tetraspanin 12
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TULP1
|
tubby like protein 1
|
|
TYMP
|
thymidine phosphorylase
|
|
TYMS
|
thymidylate synthetase
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UGT1A
|
UDP glucuronosyltransferase 1 family, polypeptide A complex locus
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UGT1A4
|
UDP glucuronosyltransferase 1 family, polypeptide A4
|
|
UMOD
|
uromodulin
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCP
|
valosin containing protein
|
|
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
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WDR62
|
WD repeat domain 62
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WT1
|
Wilms tumor 1
|
|
XPNPEP2
|
X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
XRCC2
|
X-ray repair complementing defective repair in Chinese hamster cells 2
|
|
XRCC3
|
X-ray repair complementing defective repair in Chinese hamster cells 3
|
|
XRCC4
|
X-ray repair complementing defective repair in Chinese hamster cells 4
|
|
XRCC5
|
X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
|
|
YAP1
|
Yes-associated protein 1
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC1
|
Zic family member 1
|
|
ZIC4
|
Zic family member 4
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
