| Symbol |
Name |
|
A2M
|
alpha-2-macroglobulin
|
|
A4GALT
|
alpha 1,4-galactosyltransferase
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
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
|
|
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
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACP1
|
acid phosphatase 1, soluble
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTN3
|
actinin, alpha 3 (gene/pseudogene)
|
|
ADAM23
|
ADAM metallopeptidase domain 23
|
|
ADAM3A
|
ADAM metallopeptidase domain 3A (pseudogene)
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTS17
|
ADAM metallopeptidase with thrombospondin type 1 motif, 17
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADD1
|
adducin 1 (alpha)
|
|
ADD2
|
adducin 2 (beta)
|
|
ADD3
|
adducin 3 (gamma)
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
ADRB1
|
adrenoceptor beta 1
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AGTR2
|
angiotensin II receptor, type 2
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
AIRE
|
autoimmune regulator
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALB
|
albumin
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALPK1
|
alpha-kinase 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMN
|
amnion associated transmembrane protein
|
|
ANGPTL3
|
angiopoietin-like 3
|
|
ANK2
|
ankyrin 2, neuronal
|
|
ANKK1
|
ankyrin repeat and kinase domain containing 1
|
|
ANXA10
|
annexin A10
|
|
AOC1
|
amine oxidase, copper containing 1
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
APEX1
|
APEX nuclease (multifunctional DNA repair enzyme) 1
|
|
APOA2
|
apolipoprotein A-II
|
|
APOA5
|
apolipoprotein A-V
|
|
APOB
|
apolipoprotein B
|
|
APOBEC3A
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
|
|
APOBEC3B
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
|
|
APOC3
|
apolipoprotein C-III
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AQP3
|
aquaporin 3 (Gill blood group)
|
|
AR
|
androgen receptor
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ARSB
|
arylsulfatase B
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATF2
|
activating transcription factor 2
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN2
|
ataxin 2
|
|
AURKA
|
aurora kinase A
|
|
AURKC
|
aurora kinase C
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BARD1
|
BRCA1 associated RING domain 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BHMT
|
betaine--homocysteine S-methyltransferase
|
|
BIN1
|
bridging integrator 1
|
|
BLMH
|
bleomycin hydrolase
|
|
BLVRA
|
biliverdin reductase A
|
|
BNIP3
|
BCL2/adenovirus E1B 19kDa interacting protein 3
|
|
BNIP3L
|
BCL2/adenovirus E1B 19kDa interacting protein 3-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRINP1
|
bone morphogenetic protein/retinoic acid inducible neural-specific 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C1QA
|
complement component 1, q subcomponent, A chain
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C3
|
complement component 3
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
CA12
|
carbonic anhydrase XII
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CAPN10
|
calpain 10
|
|
CAPN3
|
calpain 3, (p94)
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASP12
|
caspase 12 (gene/pseudogene)
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CASR
|
calcium-sensing receptor
|
|
CAT
|
catalase
|
|
CAV3
|
caveolin 3
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCND1
|
cyclin D1
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD14
|
CD14 molecule
|
|
CD2AP
|
CD2-associated protein
|
|
CD320
|
CD320 molecule
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CDA
|
cytidine deaminase
|
|
CDAN1
|
codanin 1
|
|
CDH23
|
cadherin-related 23
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDK6
|
cyclin-dependent kinase 6
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2B-AS1
|
CDKN2B antisense RNA 1
|
|
CDSN
|
corneodesmosin
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFH
|
complement factor H
|
|
CFHR1
|
complement factor H-related 1
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHKB
|
choline kinase beta
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN16
|
claudin 16
|
|
CLEC11A
|
C-type lectin domain family 11, member A
|
|
CLEC4M
|
C-type lectin domain family 4, member M
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNDP1
|
carnosine dipeptidase 1 (metallopeptidase M20 family)
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNOT3
|
CCR4-NOT transcription complex, subunit 3
|
|
CNR1
|
cannabinoid receptor 1 (brain)
|
|
CNTF
|
ciliary neurotrophic factor
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ9
|
coenzyme Q9
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPB2
|
carboxypeptidase B2 (plasma)
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRH
|
corticotropin releasing hormone
|
|
CRHBP
|
corticotropin releasing hormone binding protein
|
|
CRHR1
|
corticotropin releasing hormone receptor 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBB1
|
crystallin, beta B1
|
|
CSMD1
|
CUB and Sushi multiple domains 1
|
|
CST3
|
cystatin C
|
|
CSTA
|
cystatin A (stefin A)
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSC
|
cathepsin C
|
|
CTSF
|
cathepsin F
|
|
CTSK
|
cathepsin K
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CUL7
|
cullin 7
|
|
CXCL12
|
chemokine (C-X-C motif) ligand 12
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBRD1
|
cytochrome b reductase 1
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
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
|
|
CYP1A2
|
cytochrome P450, family 1, subfamily A, polypeptide 2
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, 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
|
|
CYP2E1
|
cytochrome P450, family 2, subfamily E, polypeptide 1
|
|
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
|
|
CYP46A1
|
cytochrome P450, family 46, subfamily A, polypeptide 1
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
CYP7A1
|
cytochrome P450, family 7, subfamily A, polypeptide 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCX
|
doublecortin
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DDX39B
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DIO2
|
deiodinase, iodothyronine, type II
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DMBT1
|
deleted in malignant brain tumors 1
|
|
DNAH8
|
dynein, axonemal, heavy chain 8
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNM2
|
dynamin 2
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
DSC2
|
desmocollin 2
|
|
DSE
|
dermatan sulfate epimerase
|
|
DSP
|
desmoplakin
|
|
DST
|
dystonin
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
ECE1
|
endothelin converting enzyme 1
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDNRB
|
endothelin receptor type B
|
|
EFHC1
|
EF-hand domain (C-terminal) containing 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGR2
|
early growth response 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ENPP3
|
ectonucleotide pyrophosphatase/phosphodiesterase 3
|
|
EPO
|
erythropoietin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESR1
|
estrogen receptor 1
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
ETV5
|
ets variant 5
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXOSC3
|
exosome component 3
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F10
|
coagulation factor X
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
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
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FABP2
|
fatty acid binding protein 2, intestinal
|
|
FADS1
|
fatty acid desaturase 1
|
|
FADS2
|
fatty acid desaturase 2
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAS
|
Fas cell surface death receptor
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FERMT1
|
fermitin family member 1
|
|
FERMT3
|
fermitin family member 3
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHIT
|
fragile histidine triad
|
|
FKBP5
|
FK506 binding protein 5
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLCN
|
folliculin
|
|
FLG
|
filaggrin
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FOXE1
|
forkhead box E1
|
|
FOXE3
|
forkhead box E3
|
|
FOXL2
|
forkhead box L2
|
|
FOXP2
|
forkhead box P2
|
|
FOXP3
|
forkhead box P3
|
|
FPR1
|
formyl peptide receptor 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FTCDNL1
|
formiminotransferase cyclodeaminase N-terminal like
|
|
FTO
|
fat mass and obesity associated
|
|
FXN
|
frataxin
|
|
FZD4
|
frizzled class receptor 4
|
|
FZD6
|
frizzled class receptor 6
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABPA
|
GA binding protein transcription factor, alpha subunit 60kDa
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GAN
|
gigaxonin
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA
|
glucosidase, beta, acid
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCHFR
|
GTP cyclohydrolase I feedback regulator
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GHR
|
growth hormone receptor
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GNAS
|
GNAS complex locus
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GPD1
|
glycerol-3-phosphate dehydrogenase 1 (soluble)
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GPX1
|
glutathione peroxidase 1
|
|
GRK1
|
G protein-coupled receptor kinase 1
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GRN
|
granulin
|
|
GSN
|
gelsolin
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTO2
|
glutathione S-transferase omega 2
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYS1
|
glycogen synthase 1 (muscle)
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HBB
|
hemoglobin, beta
|
|
HBE1
|
hemoglobin, epsilon 1
|
|
HBG2
|
hemoglobin, gamma G
|
|
HCN2
|
hyperpolarization activated cyclic nucleotide gated potassium channel 2
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
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-E
|
major histocompatibility complex, class I, E
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HLA-J
|
major histocompatibility complex, class I, J (pseudogene)
|
|
HMGCR
|
3-hydroxy-3-methylglutaryl-CoA reductase
|
|
HMX1
|
H6 family homeobox 1
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HNMT
|
histamine N-methyltransferase
|
|
HOXA1
|
homeobox A1
|
|
HOXC13
|
homeobox C13
|
|
HOXD13
|
homeobox D13
|
|
HP
|
haptoglobin
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HR
|
hair growth associated
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HRG
|
histidine-rich glycoprotein
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSD17B12
|
hydroxysteroid (17-beta) dehydrogenase 12
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B2
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
|
|
HSPA1A
|
heat shock 70kDa protein 1A
|
|
HSPA1B
|
heat shock 70kDa protein 1B
|
|
HSPA1L
|
heat shock 70kDa protein 1-like
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
HTR1B
|
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICAM3
|
intercellular adhesion molecule 3
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFNG
|
interferon, gamma
|
|
IFNL2
|
interferon, lambda 2
|
|
IFNL3
|
interferon, lambda 3
|
|
IFT122
|
intraflagellar transport 122
|
|
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
|
|
IGFBP3
|
insulin-like growth factor binding protein 3
|
|
IHH
|
indian hedgehog
|
|
IL10
|
interleukin 10
|
|
IL11
|
interleukin 11
|
|
IL12B
|
interleukin 12B
|
|
IL1A
|
interleukin 1, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL1R1
|
interleukin 1 receptor, type I
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL23R
|
interleukin 23 receptor
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IL4
|
interleukin 4
|
|
IL4R
|
interleukin 4 receptor
|
|
IL6
|
interleukin 6
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INS
|
insulin
|
|
INSIG2
|
insulin induced gene 2
|
|
INSR
|
insulin receptor
|
|
INVS
|
inversin
|
|
IRF1
|
interferon regulatory factor 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)
|
|
ITGAV
|
integrin, alpha V
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITPA
|
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAK2
|
Janus kinase 2
|
|
KANK2
|
KN motif and ankyrin repeat domains 2
|
|
KAT2B
|
K(lysine) acetyltransferase 2B
|
|
KCNA3
|
potassium channel, voltage gated shaker related subfamily A, member 3
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNE2
|
potassium channel, voltage gated subfamily E regulatory beta subunit 2
|
|
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
|
|
KCNJ3
|
potassium channel, inwardly rectifying subfamily J, member 3
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNS1
|
potassium voltage-gated channel, modifier subfamily S, member 1
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KEL
|
Kell blood group, metallo-endopeptidase
|
|
KIAA0196
|
KIAA0196
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KIR2DS1
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KL
|
klotho
|
|
KLF12
|
Kruppel-like factor 12
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KRT10
|
keratin 10, type I
|
|
KRT5
|
keratin 5, type II
|
|
KRT85
|
keratin 85, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB1
|
laminin, beta 1
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMB3
|
laminin, beta 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LIAS
|
lipoic acid synthetase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LINC01587
|
long intergenic non-protein coding RNA 1587
|
|
LIPC
|
lipase, hepatic
|
|
LIPE
|
lipase, hormone-sensitive
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LPIN2
|
lipin 2
|
|
LPL
|
lipoprotein lipase
|
|
LRP1B
|
low density lipoprotein receptor-related protein 1B
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
LTA
|
lymphotoxin alpha
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LTBP3
|
latent transforming growth factor beta binding protein 3
|
|
LYRM4
|
LYR motif containing 4
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAK
|
male germ cell-associated kinase
|
|
MALT1
|
MALT1 paracaspase
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAOA
|
monoamine oxidase A
|
|
MAP2K4
|
mitogen-activated protein kinase kinase 4
|
|
MAPT
|
microtubule-associated protein tau
|
|
MASP2
|
mannan-binding lectin serine peptidase 2
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCFD2
|
multiple coagulation factor deficiency 2
|
|
MCM3AP
|
minichromosome maintenance complex component 3 associated protein
|
|
MCOLN1
|
mucolipin 1
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MDM4
|
MDM4, p53 regulator
|
|
MEFV
|
Mediterranean fever
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR2861
|
microRNA 2861
|
|
MIR31
|
microRNA 31
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP7
|
matrix metallopeptidase 7
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPO
|
myeloperoxidase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MPZL3
|
myelin protein zero-like 3
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSX1
|
msh homeobox 1
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MTHFD1
|
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MUTYH
|
mutY homolog
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYF5
|
myogenic factor 5
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO5B
|
myosin VB
|
|
MYO7A
|
myosin VIIA
|
|
MYO9B
|
myosin IXB
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOD1
|
myogenic differentiation 1
|
|
MYOT
|
myotilin
|
|
NAGK
|
N-acetylglucosamine kinase
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NAIP
|
NLR family, apoptosis inhibitory protein
|
|
NAMPT
|
nicotinamide phosphoribosyltransferase
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NBN
|
nibrin
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NEB
|
nebulin
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NEU2
|
sialidase 2 (cytosolic sialidase)
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NFATC1
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NFKBIL1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NLRP7
|
NLR family, pyrin domain containing 7
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
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
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
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
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C3A
|
5'-nucleotidase, cytosolic IIIA
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OPN4
|
opsin 4
|
|
OPRM1
|
opioid receptor, mu 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTOF
|
otoferlin
|
|
OXTR
|
oxytocin receptor
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PALLD
|
palladin, cytoskeletal associated protein
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PAX1
|
paired box 1
|
|
PAX4
|
paired box 4
|
|
PAX9
|
paired box 9
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCNT
|
pericentrin
|
|
PCSK7
|
proprotein convertase subtilisin/kexin type 7
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDHB
|
pyruvate dehydrogenase (lipoamide) beta
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PECAM1
|
platelet/endothelial cell adhesion molecule 1
|
|
PEMT
|
phosphatidylethanolamine N-methyltransferase
|
|
PER3
|
period circadian clock 3
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PICK1
|
protein interacting with PRKCA 1
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PIP5K1C
|
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
|
|
PITX1
|
paired-like homeodomain 1
|
|
PITX3
|
paired-like homeodomain 3
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKP1
|
plakophilin 1
|
|
PKP2
|
plakophilin 2
|
|
PLA2G4A
|
phospholipase A2, group IVA (cytosolic, calcium-dependent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA3
|
patatin-like phospholipase domain containing 3
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PON1
|
paraoxonase 1
|
|
PON2
|
paraoxonase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPARA
|
peroxisome proliferator-activated receptor alpha
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP2R2A
|
protein phosphatase 2, regulatory subunit B, alpha
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKCDBP
|
protein kinase C, delta binding protein
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROCR
|
protein C receptor, endothelial
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROK2
|
prokineticin 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN2
|
protein tyrosine phosphatase, non-receptor type 2
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRF
|
protein tyrosine phosphatase, receptor type, F
|
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
|
PTPRN2
|
protein tyrosine phosphatase, receptor type, N polypeptide 2
|
|
PTX3
|
pentraxin 3, long
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
PXDN
|
peroxidasin
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAD51
|
RAD51 recombinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RB1
|
retinoblastoma 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
REL
|
v-rel avian reticuloendotheliosis viral oncogene homolog
|
|
RELN
|
reelin
|
|
RET
|
ret proto-oncogene
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RGMA
|
repulsive guidance molecule family member a
|
|
RGS9
|
regulator of G-protein signaling 9
|
|
RGS9BP
|
regulator of G protein signaling 9 binding protein
|
|
RHCE
|
Rh blood group, CcEe antigens
|
|
RHD
|
Rh blood group, D antigen
|
|
RHO
|
rhodopsin
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RLN2
|
relaxin 2
|
|
RNF213
|
ring finger protein 213
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS14
|
ribosomal protein S14
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
S100B
|
S100 calcium binding protein B
|
|
SAA1
|
serum amyloid A1
|
|
SACS
|
sacsin molecular chaperone
|
|
SAMD9
|
sterile alpha motif domain containing 9
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SEMA3B
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
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
|
|
SETX
|
senataxin
|
|
SFTPB
|
surfactant protein B
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SH2D2A
|
SH2 domain containing 2A
|
|
SHBG
|
sex hormone-binding globulin
|
|
SHOX
|
short stature homeobox
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIRT3
|
sirtuin 3
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC11A1
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A27
|
solute carrier family 25, member 27
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC28A3
|
solute carrier family 28 (concentrative nucleoside transporter), member 3
|
|
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
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC38A8
|
solute carrier family 38, member 8
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC47A1
|
solute carrier family 47 (multidrug and toxin extrusion), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A2
|
solute carrier family 6 (neurotransmitter transporter), member 2
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMIM1
|
small integral membrane protein 1 (Vel blood group)
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOD3
|
superoxide dismutase 3, extracellular
|
|
SOST
|
sclerostin
|
|
SP110
|
SP110 nuclear body protein
|
|
SPATA16
|
spermatogenesis associated 16
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTA1
|
spectrin, alpha, 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)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAG3
|
stromal antigen 3
|
|
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)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STAT6
|
signal transducer and activator of transcription 6, interleukin-4 induced
|
|
STH
|
saitohin
|
|
STIM1
|
stromal interaction molecule 1
|
|
STK11
|
serine/threonine kinase 11
|
|
STK32B
|
serine/threonine kinase 32B
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STX11
|
syntaxin 11
|
|
STXBP5L
|
syntaxin binding protein 5-like
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TAF4B
|
TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAS2R16
|
taste receptor, type 2, member 16
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBC1D4
|
TBC1 domain family, member 4
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TFR2
|
transferrin receptor 2
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGM2
|
transglutaminase 2
|
|
TGM5
|
transglutaminase 5
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THBS1
|
thrombospondin 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
THSD7A
|
thrombospondin, type I, domain containing 7A
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIRAP
|
toll-interleukin 1 receptor (TIR) domain containing adaptor protein
|
|
TLR2
|
toll-like receptor 2
|
|
TLR3
|
toll-like receptor 3
|
|
TLR4
|
toll-like receptor 4
|
|
TLR5
|
toll-like receptor 5
|
|
TLR6
|
toll-like receptor 6
|
|
TLR9
|
toll-like receptor 9
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMC8
|
transmembrane channel-like 8
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TMEM70
|
transmembrane protein 70
|
|
TMIE
|
transmembrane inner ear
|
|
TNF
|
tumor necrosis factor
|
|
TNFAIP3
|
tumor necrosis factor, alpha-induced protein 3
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TNFSF13B
|
tumor necrosis factor (ligand) superfamily, member 13b
|
|
TNK2
|
tyrosine kinase, non-receptor, 2
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TOR1AIP1
|
torsin A interacting protein 1
|
|
TP53
|
tumor protein p53
|
|
TP73
|
tumor protein p73
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPO
|
thyroid peroxidase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TPRN
|
taperin
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TRPM8
|
transient receptor potential cation channel, subfamily M, member 8
|
|
TRPV1
|
transient receptor potential cation channel, subfamily V, member 1
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPY1
|
testis specific protein, Y-linked 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBB1
|
tubulin, beta 1 class VI
|
|
TULP1
|
tubby like protein 1
|
|
TUSC2
|
tumor suppressor candidate 2
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TYMP
|
thymidine phosphorylase
|
|
TYMS
|
thymidylate synthetase
|
|
TYR
|
tyrosinase
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UCP1
|
uncoupling protein 1 (mitochondrial, proton carrier)
|
|
UCP2
|
uncoupling protein 2 (mitochondrial, proton carrier)
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UGT2B17
|
UDP glucuronosyltransferase 2 family, polypeptide B17
|
|
UQCRC2
|
ubiquinol-cytochrome c reductase core protein II
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
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
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (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
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT6
|
wingless-type MMTV integration site family, member 6
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
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
|
|
XYLT1
|
xylosyltransferase I
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZMYND15
|
zinc finger, MYND-type containing 15
|
|
ZNF469
|
zinc finger protein 469
|
|
ZP1
|
zona pellucida glycoprotein 1 (sperm receptor)
|
