| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACP1
|
acid phosphatase 1, soluble
|
|
ADA
|
adenosine deaminase
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AGER
|
advanced glycosylation end product-specific receptor
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
APC
|
adenomatous polyposis coli
|
|
APOE
|
apolipoprotein E
|
|
APOH
|
apolipoprotein H (beta-2-glycoprotein I)
|
|
AR
|
androgen receptor
|
|
ARX
|
aristaless related homeobox
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
BCL2L1
|
BCL2-like 1
|
|
BRCA1
|
breast cancer 1, early onset
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CASR
|
calcium-sensing receptor
|
|
CAT
|
catalase
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCL3
|
chemokine (C-C motif) ligand 3
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD101
|
CD101 molecule
|
|
CD14
|
CD14 molecule
|
|
CD244
|
CD244 molecule, natural killer cell receptor 2B4
|
|
CD28
|
CD28 molecule
|
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CD40LG
|
CD40 ligand
|
|
CD72
|
CD72 molecule
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK2
|
checkpoint kinase 2
|
|
CLDN19
|
claudin 19
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CSF1
|
colony stimulating factor 1 (macrophage)
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10
|
|
CXCL12
|
chemokine (C-X-C motif) ligand 12
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DEL22Q11.2
|
Chromosome 22q11.2 deletion syndrome, distal
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPYSL5
|
dihydropyrimidinase-like 5
|
|
DSC2
|
desmocollin 2
|
|
EDN1
|
endothelin 1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGFR
|
epidermal growth factor receptor
|
|
ENG
|
endoglin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESR1
|
estrogen receptor 1
|
|
F10
|
coagulation factor X
|
|
F2
|
coagulation factor II (thrombin)
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FABP4
|
fatty acid binding protein 4, adipocyte
|
|
FBN1
|
fibrillin 1
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FCN3
|
ficolin (collagen/fibrinogen domain containing) 3
|
|
FGB
|
fibrinogen beta chain
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNA
|
filamin A, alpha
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FN1
|
fibronectin 1
|
|
FOXL2
|
forkhead box L2
|
|
FOXP3
|
forkhead box P3
|
|
FRAXA
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FYB
|
FYN binding protein
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GATA3
|
GATA binding protein 3
|
|
GBA
|
glucosidase, beta, acid
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF15
|
growth differentiation factor 15
|
|
GH1
|
growth hormone 1
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GIMAP5
|
GTPase, IMAP family member 5
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GNAS
|
GNAS complex locus
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HCCS
|
holocytochrome c synthase
|
|
HFE
|
hemochromatosis
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-DRB4
|
major histocompatibility complex, class II, DR beta 4
|
|
HNF1A
|
HNF1 homeobox A
|
|
HOXD13
|
homeobox D13
|
|
HRES1
|
HTLV-1 related endogenous sequence
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
HTT
|
huntingtin
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFNA1
|
interferon, alpha 1
|
|
IFNG
|
interferon, gamma
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL10
|
interleukin 10
|
|
IL15
|
interleukin 15
|
|
IL17A
|
interleukin 17A
|
|
IL17F
|
interleukin 17F
|
|
IL18
|
interleukin 18
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL23A
|
interleukin 23, alpha subunit p19
|
|
IL31
|
interleukin 31
|
|
IL33
|
interleukin 33
|
|
IL6
|
interleukin 6
|
|
IRF1
|
interferon regulatory factor 1
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGAM
|
integrin, alpha M (complement component 3 receptor 3 subunit)
|
|
ITGB4
|
integrin, beta 4
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KCNA6
|
potassium channel, voltage gated shaker related subfamily A, member 6
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LEP
|
leptin
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
LPIN3
|
lipin 3
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LTA
|
lymphotoxin alpha
|
|
LYVE1
|
lymphatic vessel endothelial hyaluronan receptor 1
|
|
MAG
|
myelin associated glycoprotein
|
|
MAPT
|
microtubule-associated protein tau
|
|
MAVS
|
mitochondrial antiviral signaling protein
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MBP
|
myelin basic protein
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MLH1
|
mutL homolog 1
|
|
MSH2
|
mutS homolog 2
|
|
MT-TK
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
NAV3
|
neuron navigator 3
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NLRP1
|
NLR family, pyrin domain containing 1
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPSR1
|
neuropeptide S receptor 1
|
|
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
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PAX6
|
paired box 6
|
|
PDCD1
|
programmed cell death 1
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PKP2
|
plakophilin 2
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLEC
|
plectin
|
|
PMM1
|
phosphomannomutase 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PON1
|
paraoxonase 1
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PSORS4
|
psoriasis susceptibility 4
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTH
|
parathyroid hormone
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD52
|
RAD52 homolog (S. cerevisiae)
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RET
|
ret proto-oncogene
|
|
RGS4
|
regulator of G-protein signaling 4
|
|
RNF123
|
ring finger protein 123
|
|
RUNX1
|
runt-related transcription factor 1
|
|
S100B
|
S100 calcium binding protein B
|
|
SAA1
|
serum amyloid A1
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A2
|
solute carrier family 6 (neurotransmitter transporter), member 2
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLEB3
|
systemic lupus erythematosus susceptibility 3
|
|
SMAD4
|
SMAD family member 4
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SP3
|
Sp3 transcription factor
|
|
SPAST
|
spastin
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SSB
|
Sjogren syndrome antigen B (autoantigen La)
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STAT6
|
signal transducer and activator of transcription 6, interleukin-4 induced
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
TACR1
|
tachykinin receptor 1
|
|
TARDBP
|
TAR DNA binding protein
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFPI
|
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
|
|
TFPI2
|
tissue factor pathway inhibitor 2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TLR1
|
toll-like receptor 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR6
|
toll-like receptor 6
|
|
TNF
|
tumor necrosis factor
|
|
TNFAIP3
|
tumor necrosis factor, alpha-induced protein 3
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFRSF8
|
tumor necrosis factor receptor superfamily, member 8
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRIM63
|
tripartite motif containing 63, E3 ubiquitin protein ligase
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTF1
|
transcription termination factor, RNA polymerase I
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYK2
|
tyrosine kinase 2
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
XCL1
|
chemokine (C motif) ligand 1
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
ZFP36
|
ZFP36 ring finger protein
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
