| Symbol |
Name |
|
A2M
|
alpha-2-macroglobulin
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
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
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACE2
|
angiotensin I converting enzyme 2
|
|
ACKR3
|
atypical chemokine receptor 3
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACVR2B
|
activin A receptor, type IIB
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADIPQTL3
|
Circulating adiponectin QTL on chromosome 14
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AFP
|
alpha-fetoprotein
|
|
AGR2
|
anterior gradient 2
|
|
AGTRAP
|
angiotensin II receptor-associated protein
|
|
AHI1
|
Abelson helper integration site 1
|
|
AHSG
|
alpha-2-HS-glycoprotein
|
|
AICDA
|
activation-induced cytidine deaminase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANO5
|
anoctamin 5
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
APOE
|
apolipoprotein E
|
|
APOH
|
apolipoprotein H (beta-2-glycoprotein I)
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
AQP4
|
aquaporin 4
|
|
AR
|
androgen receptor
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARNT
|
aryl hydrocarbon receptor nuclear translocator
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASIC1
|
acid sensing (proton gated) ion channel 1
|
|
ASMT
|
acetylserotonin O-methyltransferase
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATG4A
|
autophagy related 4A, cysteine peptidase
|
|
ATG4B
|
autophagy related 4B, cysteine peptidase
|
|
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
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AURKA
|
aurora kinase A
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
AVPR1A
|
arginine vasopressin receptor 1A
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BCHE
|
butyrylcholinesterase
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCOR
|
BCL6 corepressor
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP6
|
bone morphogenetic protein 6
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C3
|
complement component 3
|
|
C5AR2
|
complement component 5a receptor 2
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA2
|
carbonic anhydrase II
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CACNB2
|
calcium channel, voltage-dependent, beta 2 subunit
|
|
CADM1
|
cell adhesion molecule 1
|
|
CADPS2
|
Ca++-dependent secretion activator 2
|
|
CALR
|
calreticulin
|
|
CAMK4
|
calcium/calmodulin-dependent protein kinase IV
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCK
|
cholecystokinin
|
|
CCL18
|
chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
|
|
CCNB3
|
cyclin B3
|
|
CCND1
|
cyclin D1
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD19
|
CD19 molecule
|
|
CD209
|
CD209 molecule
|
|
CD28
|
CD28 molecule
|
|
CD38
|
CD38 molecule
|
|
CD4
|
CD4 molecule
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CD86
|
CD86 molecule
|
|
CDH11
|
cadherin 11, type 2, OB-cadherin (osteoblast)
|
|
CDH23
|
cadherin-related 23
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CELF1
|
CUGBP, Elav-like family member 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHD8
|
chromodomain helicase DNA binding protein 8
|
|
CHDS3
|
Coronary heart disease, susceptibility to, 3
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNTN4
|
contactin 4
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
CNTNAP5
|
contactin associated protein-like 5
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ4
|
coenzyme Q4
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB2
|
crystallin, beta B2
|
|
CSMD3
|
CUB and Sushi multiple domains 3
|
|
CTAG2
|
cancer/testis antigen 2
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CUX1
|
cut-like homeobox 1
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP17A1
|
cytochrome P450, family 17, 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
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2E1
|
cytochrome P450, family 2, subfamily E, polypeptide 1
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAO
|
D-amino-acid oxidase
|
|
DAOA
|
D-amino acid oxidase activator
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCX
|
doublecortin
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DLX5
|
distal-less homeobox 5
|
|
DLX6
|
distal-less homeobox 6
|
|
DMBT1
|
deleted in malignant brain tumors 1
|
|
DMD
|
dystrophin
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DOCK4
|
dedicator of cytokinesis 4
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPY19L2
|
dpy-19-like 2 (C. elegans)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD1
|
dopamine receptor D1
|
|
DRD3
|
dopamine receptor D3
|
|
DRD4
|
dopamine receptor D4
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EDA
|
ectodysplasin A
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGF
|
epidermal growth factor
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EMD
|
emerin
|
|
EN2
|
engrailed homeobox 2
|
|
ETV6
|
ets variant 6
|
|
EXPH5
|
exophilin 5
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FBN1
|
fibrillin 1
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLCN
|
folliculin
|
|
FLG
|
filaggrin
|
|
FLNA
|
filamin A, alpha
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FNDC3A
|
fibronectin type III domain containing 3A
|
|
FOXC1
|
forkhead box C1
|
|
FOXE1
|
forkhead box E1
|
|
FOXE3
|
forkhead box E3
|
|
FOXG1
|
forkhead box G1
|
|
FOXL2
|
forkhead box L2
|
|
FOXP2
|
forkhead box P2
|
|
FPR2
|
formyl peptide receptor 2
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FRMD7
|
FERM domain containing 7
|
|
FTH1
|
ferritin, heavy polypeptide 1
|
|
FUS
|
FUS RNA binding protein
|
|
FZD6
|
frizzled class receptor 6
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GABARAPL2
|
GABA(A) receptor-associated protein-like 2
|
|
GABRA2
|
gamma-aminobutyric acid (GABA) A receptor, alpha 2
|
|
GABRA3
|
gamma-aminobutyric acid (GABA) A receptor, alpha 3
|
|
GABRA5
|
gamma-aminobutyric acid (GABA) A receptor, alpha 5
|
|
GABRA6
|
gamma-aminobutyric acid (GABA) A receptor, alpha 6
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GABRR1
|
gamma-aminobutyric acid (GABA) A receptor, rho 1
|
|
GALC
|
galactosylceramidase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GDF15
|
growth differentiation factor 15
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLO1
|
glyoxalase I
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GPC3
|
glypican 3
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRIN2D
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2D
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GRM7
|
glutamate receptor, metabotropic 7
|
|
GRN
|
granulin
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
HAGH
|
hydroxyacylglutathione hydrolase
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLTF
|
helicase-like transcription factor
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA1
|
homeobox A1
|
|
HOXA@
|
homeobox A cluster
|
|
HOXB1
|
homeobox B1
|
|
HOXD11
|
homeobox D11
|
|
HOXD12
|
homeobox D12
|
|
HOXD13
|
homeobox D13
|
|
HRH1
|
histamine receptor H1
|
|
HRH2
|
histamine receptor H2
|
|
HSF4
|
heat shock transcription factor 4
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
HTR1B
|
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
HTR2C
|
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
|
|
HTR3C
|
5-hydroxytryptamine (serotonin) receptor 3C, ionotropic
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFITM1
|
interferon induced transmembrane protein 1
|
|
IFITM2
|
interferon induced transmembrane protein 2
|
|
IFITM3
|
interferon induced transmembrane protein 3
|
|
IFNG
|
interferon, gamma
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT80
|
intraflagellar transport 80
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IKBKE
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL12B
|
interleukin 12B
|
|
IL17A
|
interleukin 17A
|
|
IL18
|
interleukin 18
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL23A
|
interleukin 23, alpha subunit p19
|
|
IL24
|
interleukin 24
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IL6
|
interleukin 6
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
IRAK4
|
interleukin-1 receptor-associated kinase 4
|
|
IRF5
|
interferon regulatory factor 5
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITGB4
|
integrin, beta 4
|
|
ITIH3
|
inter-alpha-trypsin inhibitor heavy chain 3
|
|
ITIH4
|
inter-alpha-trypsin inhibitor heavy chain family, member 4
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNA6
|
potassium channel, voltage gated shaker related subfamily A, member 6
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
KLRK1
|
killer cell lectin-like receptor subfamily K, member 1
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT10
|
keratin 10, type I
|
|
KRT16
|
keratin 16, type I
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC1
|
laminin, gamma 1 (formerly LAMB2)
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LEPQTL1
|
Leptin, serum levels of
|
|
LEPR
|
leptin receptor
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LIN7B
|
lin-7 homolog B (C. elegans)
|
|
LIPC
|
lipase, hepatic
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LOC643387
|
TAR DNA binding protein pseudogene
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LPL
|
lipoprotein lipase
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAOA
|
monoamine oxidase A
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARK1
|
MAP/microtubule affinity-regulating kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBNL1
|
muscleblind-like splicing regulator 1
|
|
MBP
|
myelin basic protein
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCPH1
|
microcephalin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEFV
|
Mediterranean fever
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MFRP
|
membrane frizzled-related protein
|
|
MGEA5
|
meningioma expressed antigen 5 (hyaluronidase)
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MIR137
|
microRNA 137
|
|
MIR203A
|
microRNA 203a
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP12
|
matrix metallopeptidase 12
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MPZ
|
myelin protein zero
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-TL1
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTNR1A
|
melatonin receptor 1A
|
|
MTNR1B
|
melatonin receptor 1B
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUTYH
|
mutY homolog
|
|
MVK
|
mevalonate kinase
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOT
|
myotilin
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFIB
|
nuclear factor I/B
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NID1
|
nidogen 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN3
|
neuroligin 3
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRG1
|
neuregulin 1
|
|
NRXN1
|
neurexin 1
|
|
NRXN2
|
neurexin 2
|
|
NRXN3
|
neurexin 3
|
|
NTF3
|
neurotrophin 3
|
|
NTF4
|
neurotrophin 4
|
|
NTRK3
|
neurotrophic tyrosine kinase, receptor, type 3
|
|
NYX
|
nyctalopin
|
|
OLIG2
|
oligodendrocyte lineage transcription factor 2
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPCML
|
opioid binding protein/cell adhesion molecule-like
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OPN4
|
opsin 4
|
|
OSM
|
oncostatin M
|
|
OTOF
|
otoferlin
|
|
OVGP1
|
oviductal glycoprotein 1, 120kDa
|
|
OXT
|
oxytocin/neurophysin I prepropeptide
|
|
OXTR
|
oxytocin receptor
|
|
PAH
|
phenylalanine hydroxylase
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PCDH19
|
protocadherin 19
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PECAM1
|
platelet/endothelial cell adhesion molecule 1
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PICALM
|
phosphatidylinositol binding clathrin assembly protein
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX1
|
paired-like homeodomain 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCZ1
|
phospholipase C, zeta 1
|
|
PLEC
|
plectin
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PON1
|
paraoxonase 1
|
|
PRDM9
|
PR domain containing 9
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRL
|
prolactin
|
|
PRNP
|
prion protein
|
|
PROS1
|
protein S (alpha)
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PRSS56
|
protease, serine, 56
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSEN1
|
presenilin 1
|
|
PTCHD1
|
patched domain containing 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN13
|
protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
|
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PWAR5
|
Prader Willi/Angelman region RNA 5
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
PYY
|
peptide YY
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAG1
|
recombination activating gene 1
|
|
RARRES2
|
retinoic acid receptor responder (tazarotene induced) 2
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RB1
|
retinoblastoma 1
|
|
RBFOX1
|
RNA binding protein, fox-1 homolog (C. elegans) 1
|
|
RBP2
|
retinol binding protein 2, cellular
|
|
RD3
|
retinal degeneration 3
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP1
|
receptor accessory protein 1
|
|
RELN
|
reelin
|
|
RET
|
ret proto-oncogene
|
|
RETN
|
resistin
|
|
RHO
|
rhodopsin
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RINT1
|
RAD50 interactor 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASE8
|
ribonuclease, RNase A family, 8
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL10
|
ribosomal protein L10
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RS1
|
retinoschisin 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SACS
|
sacsin molecular chaperone
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPT9
|
septin 9
|
|
SETX
|
senataxin
|
|
SEZ6L2
|
seizure related 6 homolog (mouse)-like 2
|
|
SHANK1
|
SH3 and multiple ankyrin repeat domains 1
|
|
SHANK2
|
SH3 and multiple ankyrin repeat domains 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SHOX
|
short stature homeobox
|
|
SIX3
|
SIX homeobox 3
|
|
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
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A9
|
solute carrier family 26 (anion exchanger), member 9
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC9A4
|
solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4
|
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SOCS1
|
suppressor of cytokine signaling 1
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOST
|
sclerostin
|
|
SP1
|
Sp1 transcription factor
|
|
SP4
|
Sp4 transcription factor
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SQSTM1
|
sequestosome 1
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SRRM4
|
serine/arginine repetitive matrix 4
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STK11
|
serine/threonine kinase 11
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STXBP2
|
syntaxin binding protein 2
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUOX
|
sulfite oxidase
|
|
SYK
|
spleen tyrosine kinase
|
|
SYN2
|
synapsin II
|
|
TACR1
|
tachykinin receptor 1
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBX1
|
T-box 1
|
|
TCF3
|
transcription factor 3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGDS
|
TDP-glucose 4,6-dehydratase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR3
|
transforming growth factor, beta receptor III
|
|
TGM1
|
transglutaminase 1
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR1
|
toll-like receptor 1
|
|
TLR3
|
toll-like receptor 3
|
|
TLR6
|
toll-like receptor 6
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMIE
|
transmembrane inner ear
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TOR1AIP1
|
torsin A interacting protein 1
|
|
TP53
|
tumor protein p53
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRB
|
T cell receptor beta locus
|
|
TRD
|
T cell receptor delta locus
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRG
|
T cell receptor gamma locus
|
|
TRNE
|
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBB2A
|
tubulin, beta 2A class IIa
|
|
TYMS
|
thymidylate synthetase
|
|
UBA3
|
ubiquitin-like modifier activating enzyme 3
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBIAD1
|
UbiA prenyltransferase domain containing 1
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UPP2
|
uridine phosphorylase 2
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCP
|
valosin containing protein
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR19
|
WD repeat domain 19
|
|
WDR62
|
WD repeat domain 62
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WT1
|
Wilms tumor 1
|
|
XCR1
|
chemokine (C motif) receptor 1
|
|
XG
|
Xg blood group
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XRCC5
|
X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC3
|
Zic family member 3
|
