| Symbol |
Name |
|
A4GALT
|
alpha 1,4-galactosyltransferase
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
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
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ABO
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTG1
|
actin gamma 1
|
|
ACTN1
|
actinin, alpha 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADAT3
|
adenosine deaminase, tRNA-specific 3
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADH1B
|
alcohol dehydrogenase 1B (class I), beta polypeptide
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRB3
|
adrenoceptor beta 3
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGAP2
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AIRE
|
autoimmune regulator
|
|
AK1
|
adenylate kinase 1
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALDH4A1
|
aldehyde dehydrogenase 4 family, member A1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
|
ANKRD26
|
ankyrin repeat domain 26
|
|
ANLN
|
anillin, actin binding protein
|
|
ANO3
|
anoctamin 3
|
|
ANO5
|
anoctamin 5
|
|
ANOS1
|
anosmin 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
APEX1
|
APEX nuclease (multifunctional DNA repair enzyme) 1
|
|
APOA1
|
apolipoprotein A-I
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APOL1
|
apolipoprotein L, 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APRT
|
adenine phosphoribosyltransferase
|
|
APTX
|
aprataxin
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AQP4
|
aquaporin 4
|
|
AR
|
androgen receptor
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARSA
|
arylsulfatase A
|
|
ARSB
|
arylsulfatase B
|
|
ARX
|
aristaless related homeobox
|
|
ASL
|
argininosuccinate lyase
|
|
ASPA
|
aspartoacylase
|
|
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
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
AXIN1
|
axin 1
|
|
AXIN2
|
axin 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BARD1
|
BRCA1 associated RING domain 1
|
|
BAX
|
BCL2-associated X protein
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BID
|
BH3 interacting domain death agonist
|
|
BIN1
|
bridging integrator 1
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BTD
|
biotinidase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C1QB
|
complement component 1, q subcomponent, B chain
|
|
C2
|
complement component 2
|
|
C3
|
complement component 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
|
CACNB2
|
calcium channel, voltage-dependent, beta 2 subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CADM1
|
cell adhesion molecule 1
|
|
CADPS2
|
Ca++-dependent secretion activator 2
|
|
CALCOCO2
|
calcium binding and coiled-coil domain 2
|
|
CALM1
|
calmodulin 1 (phosphorylase kinase, delta)
|
|
CALR
|
calreticulin
|
|
CAMP
|
cathelicidin antimicrobial peptide
|
|
CAPN3
|
calpain 3, (p94)
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV3
|
caveolin 3
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCKAR
|
cholecystokinin A receptor
|
|
CCKBR
|
cholecystokinin B receptor
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CD19
|
CD19 molecule
|
|
CD40LG
|
CD40 ligand
|
|
CDAN1
|
codanin 1
|
|
CDC73
|
cell division cycle 73
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH13
|
cadherin 13
|
|
CDH23
|
cadherin-related 23
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CELSR1
|
cadherin, EGF LAG seven-pass G-type receptor 1
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFAP57
|
cilia and flagella associated protein 57
|
|
CFH
|
complement factor H
|
|
CFI
|
complement factor I
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CHRM2
|
cholinergic receptor, muscarinic 2
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA3
|
cholinergic receptor, nicotinic, alpha 3 (neuronal)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNB3
|
cholinergic receptor, nicotinic, beta 3 (neuronal)
|
|
CHRNB4
|
cholinergic receptor, nicotinic, beta 4 (neuronal)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CHST8
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN16
|
claudin 16
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLRN1
|
clarin 1
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COASY
|
CoA synthase
|
|
COCH
|
cochlin
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL17A1
|
collagen, type XVII, 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
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPE
|
carboxypeptidase E
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPT1B
|
carnitine palmitoyltransferase 1B (muscle)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRELD1
|
cysteine-rich with EGF-like domains 1
|
|
CRH
|
corticotropin releasing hormone
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CRYGS
|
crystallin, gamma S
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSF2RA
|
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CSGALNACT1
|
chondroitin sulfate N-acetylgalactosaminyltransferase 1
|
|
CSNK1D
|
casein kinase 1, delta
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTH
|
cystathionine gamma-lyase
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTRC
|
chymotrypsin C (caldecrin)
|
|
CTSA
|
cathepsin A
|
|
CTSC
|
cathepsin C
|
|
CTSF
|
cathepsin F
|
|
CTSK
|
cathepsin K
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYCS
|
cytochrome c, somatic
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2A13
|
cytochrome P450, family 2, subfamily A, polypeptide 13
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DACT1
|
dishevelled-binding antagonist of beta-catenin 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DAZL
|
deleted in azoospermia-like
|
|
DBI
|
diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCTN1
|
dynactin 1
|
|
DCX
|
doublecortin
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DDX25
|
DEAD (Asp-Glu-Ala-Asp) box helicase 25
|
|
DES
|
desmin
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLG5
|
discs, large homolog 5 (Drosophila)
|
|
DLGAP1
|
discs, large (Drosophila) homolog-associated protein 1
|
|
DLGAP3
|
discs, large (Drosophila) homolog-associated protein 3
|
|
DMD
|
dystrophin
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNAJC13
|
DnaJ (Hsp40) homolog, subfamily C, member 13
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNM2
|
dynamin 2
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOK7
|
docking protein 7
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
DRD1
|
dopamine receptor D1
|
|
DRD3
|
dopamine receptor D3
|
|
DSC2
|
desmocollin 2
|
|
DSE
|
dermatan sulfate epimerase
|
|
DSG2
|
desmoglein 2
|
|
DSP
|
desmoplakin
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DUOX2
|
dual oxidase 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
DYX1C1
|
dyslexia susceptibility 1 candidate 1
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDN1
|
endothelin 1
|
|
EDN3
|
endothelin 3
|
|
EFHC1
|
EF-hand domain (C-terminal) containing 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGLN1
|
egl-9 family hypoxia-inducible factor 1
|
|
EGR2
|
early growth response 2
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
EIF2S3
|
eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ENG
|
endoglin
|
|
EPHA2
|
EPH receptor A2
|
|
EPHA3
|
EPH receptor A3
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ESR1
|
estrogen receptor 1
|
|
ESRRA
|
estrogen-related receptor alpha
|
|
ESRRB
|
estrogen-related receptor beta
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EVC
|
Ellis van Creveld protein
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
EXOSC3
|
exosome component 3
|
|
EXTL3
|
exostosin-like glycosyltransferase 3
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
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
|
|
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
|
|
FAAH
|
fatty acid amide hydrolase
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FAS
|
Fas cell surface death receptor
|
|
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
|
|
FECH
|
ferrochelatase
|
|
FERMT1
|
fermitin family member 1
|
|
FEZ1
|
fasciculation and elongation protein zeta 1 (zygin I)
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FHIT
|
fragile histidine triad
|
|
FHL1
|
four and a half LIM domains 1
|
|
FLCN
|
folliculin
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXL2
|
forkhead box L2
|
|
FOXO3
|
forkhead box O3
|
|
FOXP2
|
forkhead box P2
|
|
FOXP3
|
forkhead box P3
|
|
FPGS
|
folylpolyglutamate synthase
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FRMD7
|
FERM domain containing 7
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FTL
|
ferritin, light polypeptide
|
|
FTO
|
fat mass and obesity associated
|
|
FURIN
|
furin (paired basic amino acid cleaving enzyme)
|
|
FUS
|
FUS RNA binding protein
|
|
FUT1
|
fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
|
|
FZD4
|
frizzled class receptor 4
|
|
FZD6
|
frizzled class receptor 6
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PC2
|
glucose-6-phosphatase, catalytic, 2
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GALC
|
galactosylceramidase
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCKR
|
glucokinase (hexokinase 4) regulator
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GDF6
|
growth differentiation factor 6
|
|
GDF9
|
growth differentiation factor 9
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFRA1
|
GDNF family receptor alpha 1
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GH1
|
growth hormone 1
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GHSR
|
growth hormone secretagogue receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC3
|
gap junction protein, gamma 3, 30.2kDa
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLRB
|
glycine receptor, beta
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GNAS
|
GNAS complex locus
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
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
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GPATCH8
|
G patch domain containing 8
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPIHBP1
|
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
|
|
GRN
|
granulin
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTO1
|
glutathione S-transferase omega 1
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCY2C
|
guanylate cyclase 2C
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYPA
|
glycophorin A (MNS blood group)
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBD
|
hemoglobin, delta
|
|
HBG2
|
hemoglobin, gamma G
|
|
HCCS
|
holocytochrome c synthase
|
|
HCFC1
|
host cell factor C1
|
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
HDAC4
|
histone deacetylase 4
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HOMEZ
|
homeobox and leucine zipper encoding
|
|
HOXA2
|
homeobox A2
|
|
HOXB13
|
homeobox B13
|
|
HOXD10
|
homeobox D10
|
|
HOXD13
|
homeobox D13
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HR
|
hair growth associated
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HRH3
|
histamine receptor H3
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B1
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
|
HSF4
|
heat shock transcription factor 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HTR2C
|
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFNA2
|
interferon, alpha 2
|
|
IFT122
|
intraflagellar transport 122
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IHH
|
indian hedgehog
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL1B
|
interleukin 1, beta
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IL3RA
|
interleukin 3 receptor, alpha (low affinity)
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INHA
|
inhibin, alpha
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
INSR
|
insulin receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB1BP2
|
integrin beta 1 binding protein (melusin) 2
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
ITPA
|
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
KALRN
|
kalirin, RhoGEF kinase
|
|
KANK2
|
KN motif and ankyrin repeat domains 2
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNB1
|
potassium channel, voltage gated Shab related subfamily B, member 1
|
|
KCNC4
|
potassium channel, voltage gated Shaw related subfamily C, member 4
|
|
KCNE3
|
potassium channel, voltage gated subfamily E regulatory beta subunit 3
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KDR
|
kinase insert domain receptor
|
|
KEL
|
Kell blood group, metallo-endopeptidase
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0391
|
KIAA0391
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF7
|
kinesin family member 7
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF10
|
Kruppel-like factor 10
|
|
KLHL41
|
kelch-like family member 41
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KMT2C
|
lysine (K)-specific methyltransferase 2C
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
KRT12
|
keratin 12, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT3
|
keratin 3, type II
|
|
KRT4
|
keratin 4, type II
|
|
KRT5
|
keratin 5, type II
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT74
|
keratin 74, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT9
|
keratin 9, type I
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LBR
|
lamin B receptor
|
|
LDB3
|
LIM domain binding 3
|
|
LDLR
|
low density lipoprotein receptor
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LNPEP
|
leucyl/cystinyl aminopeptidase
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LPL
|
lipoprotein lipase
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRP6
|
low density lipoprotein receptor-related protein 6
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAGEA11
|
melanoma antigen family A11
|
|
MAGEE1
|
melanoma antigen family E1
|
|
MAOA
|
monoamine oxidase A
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK14
|
mitogen-activated protein kinase 14
|
|
MAPT
|
microtubule-associated protein tau
|
|
MASTL
|
microtubule associated serine/threonine kinase-like
|
|
MATN3
|
matrilin 3
|
|
MATR3
|
matrin 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC3R
|
melanocortin 3 receptor
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCFD2
|
multiple coagulation factor deficiency 2
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED23
|
mediator complex subunit 23
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MGAM
|
maltase-glucoamylase
|
|
MHS2
|
malignant hyperthermia susceptibility 2
|
|
MID2
|
midline 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP20
|
matrix metallopeptidase 20
|
|
MNT
|
MAX network transcriptional repressor
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MPG
|
N-methylpurine-DNA glycosylase
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPO
|
myeloperoxidase
|
|
MPZ
|
myelin protein zero
|
|
MRAP
|
melanocortin 2 receptor accessory protein
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MST1
|
macrophage stimulating 1
|
|
MSX1
|
msh homeobox 1
|
|
MSX2
|
msh homeobox 2
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTMR14
|
myotubularin related protein 14
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MUTYH
|
mutY homolog
|
|
MVK
|
mevalonate kinase
|
|
MXD1
|
MAX dimerization protein 1
|
|
MXI1
|
MAX interactor 1, dimerization protein
|
|
MYBPC2
|
myosin binding protein C, fast type
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
MYO1C
|
myosin IC
|
|
MYO1F
|
myosin IF
|
|
MYO5B
|
myosin VB
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOM1
|
myomesin 1
|
|
MYOZ2
|
myozenin 2
|
|
MYPN
|
myopalladin
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBN
|
nibrin
|
|
NCSTN
|
nicastrin
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEIL2
|
nei endonuclease VIII-like 2 (E. coli)
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NLRP7
|
NLR family, pyrin domain containing 7
|
|
NLRX1
|
NLR family member X1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOG
|
noggin
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NOTCH4
|
notch 4
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP4
|
nephronophthisis 4
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPR1
|
natriuretic peptide receptor 1
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRG1
|
neuregulin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NT5C3A
|
5'-nucleotidase, cytosolic IIIA
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
NYX
|
nyctalopin
|
|
OCA2
|
oculocutaneous albinism II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OPN4
|
opsin 4
|
|
OPTN
|
optineurin
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
OSMR
|
oncostatin M receptor
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTOF
|
otoferlin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
OXCT1
|
3-oxoacid CoA transferase 1
|
|
OXTR
|
oxytocin receptor
|
|
P2RX2
|
purinergic receptor P2X, ligand gated ion channel, 2
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAM
|
peptidylglycine alpha-amidating monooxygenase
|
|
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
|
|
PAX9
|
paired box 9
|
|
PCDH15
|
protocadherin-related 15
|
|
PCDH19
|
protocadherin 19
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDE4B
|
phosphodiesterase 4B, cAMP-specific
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDS5B
|
PDS5 cohesin associated factor B
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHB
|
prohibitin
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHF8
|
PHD finger protein 8
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CG
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKM
|
pyruvate kinase, muscle
|
|
PKP2
|
plakophilin 2
|
|
PLA2G7
|
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PLCG1
|
phospholipase C, gamma 1
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLIN2
|
perilipin 2
|
|
PLN
|
phospholamban
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLP1
|
proteolipid protein 1
|
|
PLXNB1
|
plexin B1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPLA1
|
patatin-like phospholipase domain containing 1
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLB
|
polymerase (DNA directed), beta
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POT1
|
protection of telomeres 1
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PPP2R1A
|
protein phosphatase 2, regulatory subunit A, alpha
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM1
|
PR domain containing 1, with ZNF domain
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRIMPOL
|
primase and polymerase (DNA-directed)
|
|
PRKACG
|
protein kinase, cAMP-dependent, catalytic, gamma
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROS1
|
protein S (alpha)
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSMB7
|
proteasome (prosome, macropain) subunit, beta type, 7
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
|
PTAFR
|
platelet-activating factor receptor
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTK2B
|
protein tyrosine kinase 2 beta
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
PYGL
|
phosphorylase, glycogen, liver
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RAC2
|
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RALGAPA1
|
Ral GTPase activating protein, alpha subunit 1 (catalytic)
|
|
RANBP2
|
RAN binding protein 2
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RBM20
|
RNA binding motif protein 20
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RETN
|
resistin
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RGS16
|
regulator of G-protein signaling 16
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
RGS4
|
regulator of G-protein signaling 4
|
|
RGS5
|
regulator of G-protein signaling 5
|
|
RGS8
|
regulator of G-protein signaling 8
|
|
RGSL1
|
regulator of G-protein signaling like 1
|
|
RHAG
|
Rh-associated glycoprotein
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RHO
|
rhodopsin
|
|
RNASEL
|
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
|
|
RNPC3
|
RNA-binding region (RNP1, RRM) containing 3
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPL11
|
ribosomal protein L11
|
|
RPL5
|
ribosomal protein L5
|
|
RPS19
|
ribosomal protein S19
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RS1
|
retinoschisin 1
|
|
RSPO4
|
R-spondin 4
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RXFP2
|
relaxin/insulin-like family peptide receptor 2
|
|
RYK
|
receptor-like tyrosine kinase
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SACS
|
sacsin molecular chaperone
|
|
SATB1
|
SATB homeobox 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SBF2
|
SET binding factor 2
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN4B
|
sodium channel, voltage gated, type IV beta 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
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SCRIB
|
scribbled planar cell polarity protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA7A
|
semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
|
|
SEPT9
|
septin 9
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINA10
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10
|
|
SERPINA6
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SETD2
|
SET domain containing 2
|
|
SETX
|
senataxin
|
|
SFTPA1
|
surfactant protein A1
|
|
SFTPC
|
surfactant protein C
|
|
SFTPD
|
surfactant protein D
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHBG
|
sex hormone-binding globulin
|
|
SHH
|
sonic hedgehog
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SHROOM3
|
shroom family member 3
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIRT1
|
sirtuin 1
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
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
|
|
SLC22A4
|
solute carrier family 22 (organic cation/zwitterion transporter), member 4
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A38
|
solute carrier family 25, member 38
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC26A1
|
solute carrier family 26 (anion exchanger), member 1
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A8
|
solute carrier family 26 (anion exchanger), member 8
|
|
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
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
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
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD2
|
SMAD family member 2
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMS
|
spermine synthase
|
|
SMUG1
|
single-strand-selective monofunctional uracil-DNA glycosylase 1
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAST
|
spastin
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPINT2
|
serine peptidase inhibitor, Kunitz type, 2
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SQSTM1
|
sequestosome 1
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRGAP1
|
SLIT-ROBO Rho GTPase activating protein 1
|
|
SRY
|
sex determining region Y
|
|
ST7
|
suppression of tumorigenicity 7
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STK11
|
serine/threonine kinase 11
|
|
STXBP2
|
syntaxin binding protein 2
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUMO3
|
small ubiquitin-like modifier 3
|
|
SURF1
|
surfeit 1
|
|
SYK
|
spleen tyrosine kinase
|
|
SYN3
|
synapsin III
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYT14
|
synaptotagmin XIV
|
|
T
|
T, brachyury homolog (mouse)
|
|
TAB2
|
TGF-beta activated kinase 1/MAP3K7 binding protein 2
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TAF15
|
TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAT
|
tyrosine aminotransferase
|
|
TAZ
|
tafazzin
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBX1
|
T-box 1
|
|
TBX22
|
T-box 22
|
|
TBX5
|
T-box 5
|
|
TCF4
|
transcription factor 4
|
|
TCN2
|
transcobalamin II
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TDG
|
thymine-DNA glycosylase
|
|
TDP2
|
tyrosyl-DNA phosphodiesterase 2
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TECTA
|
tectorin alpha
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TF
|
transferrin
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TFF1
|
trefoil factor 1
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGFBR3
|
transforming growth factor, beta receptor III
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TGM1
|
transglutaminase 1
|
|
TGM5
|
transglutaminase 5
|
|
TGM6
|
transglutaminase 6
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THBD
|
thrombomodulin
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TICAM1
|
toll-like receptor adaptor molecule 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM18
|
transmembrane protein 18
|
|
TMEM2
|
transmembrane protein 2
|
|
TMEM43
|
transmembrane protein 43
|
|
TMEM67
|
transmembrane protein 67
|
|
TMIE
|
transmembrane inner ear
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TMPRSS6
|
transmembrane protease, serine 6
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFRSF6B
|
tumor necrosis factor receptor superfamily, member 6b, decoy
|
|
TNK2
|
tyrosine kinase, non-receptor, 2
|
|
TNNI1
|
troponin I type 1 (skeletal, slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TOP1
|
topoisomerase (DNA) I
|
|
TOP2B
|
topoisomerase (DNA) II beta 180kDa
|
|
TP53
|
tumor protein p53
|
|
TP53BP1
|
tumor protein p53 binding protein 1
|
|
TP63
|
tumor protein p63
|
|
TPH1
|
tryptophan hydroxylase 1
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TPO
|
thyroid peroxidase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TREML2
|
triggering receptor expressed on myeloid cells-like 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIB3
|
tribbles pseudokinase 3
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
U2AF1
|
U2 small nuclear RNA auxiliary factor 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBIAD1
|
UbiA prenyltransferase domain containing 1
|
|
UBQLN2
|
ubiquilin 2
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UGDH
|
UDP-glucose 6-dehydrogenase
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UGT1A10
|
UDP glucuronosyltransferase 1 family, polypeptide A10
|
|
UIMC1
|
ubiquitin interaction motif containing 1
|
|
UMOD
|
uromodulin
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
UNG
|
uracil-DNA glycosylase
|
|
UPB1
|
ureidopropionase, beta
|
|
UQCRC2
|
ubiquinol-cytochrome c reductase core protein II
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP9Y
|
ubiquitin specific peptidase 9, Y-linked
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
VCL
|
vinculin
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VNN1
|
vanin 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR62
|
WD repeat domain 62
|
|
WDR76
|
WD repeat domain 76
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK4
|
WNK lysine deficient protein kinase 4
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT16
|
wingless-type MMTV integration site family, member 16
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WNT9B
|
wingless-type MMTV integration site family, member 9B
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWC1
|
WW and C2 domain containing 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XAF1
|
XIAP associated factor 1
|
|
XBP1
|
X-box binding protein 1
|
|
XDH
|
xanthine dehydrogenase
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
|
ZNF408
|
zinc finger protein 408
|
|
ZNF469
|
zinc finger protein 469
|
|
ZPBP
|
zona pellucida binding protein
|
