| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADM2
|
adrenomedullin 2
|
|
ADORA2A
|
adenosine A2a receptor
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALB
|
albumin
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ANXA1
|
annexin A1
|
|
APOA1
|
apolipoprotein A-I
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
AREG
|
amphiregulin
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
B2M
|
beta-2-microglobulin
|
|
BEST1
|
bestrophin 1
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BTC
|
betacellulin
|
|
CADM1
|
cell adhesion molecule 1
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCND1
|
cyclin D1
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD274
|
CD274 molecule
|
|
CD68
|
CD68 molecule
|
|
CD7
|
CD7 molecule
|
|
CDH5
|
cadherin 5, type 2 (vascular endothelium)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CKM
|
creatine kinase, muscle
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLU
|
clusterin
|
|
CNOT3
|
CCR4-NOT transcription complex, subunit 3
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CST3
|
cystatin C
|
|
CXCL14
|
chemokine (C-X-C motif) ligand 14
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DMD
|
dystrophin
|
|
EGFR
|
epidermal growth factor receptor
|
|
EMD
|
emerin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F2
|
coagulation factor II (thrombin)
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FABP3
|
fatty acid binding protein 3, muscle and heart
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FECH
|
ferrochelatase
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FGG
|
fibrinogen gamma chain
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FOXP3
|
forkhead box P3
|
|
FRMD7
|
FERM domain containing 7
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GNAS
|
GNAS complex locus
|
|
GRN
|
granulin
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYPA
|
glycophorin A (MNS blood group)
|
|
GYPC
|
glycophorin C (Gerbich blood group)
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBB
|
hemoglobin, beta
|
|
HBEGF
|
heparin-binding EGF-like growth factor
|
|
HBFQTL2
|
hereditary persistence of fetal hemoglobin, heterocellular
|
|
HFE
|
hemochromatosis
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HPSE
|
heparanase
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IDO1
|
indoleamine 2,3-dioxygenase 1
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGFBP1
|
insulin-like growth factor binding protein 1
|
|
IL10
|
interleukin 10
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
IL12B
|
interleukin 12B
|
|
IL1B
|
interleukin 1, beta
|
|
IL4
|
interleukin 4
|
|
IL6
|
interleukin 6
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIR2DL5A
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
|
|
KIR2DS3
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
|
|
KIR2DS5
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KLRC1
|
killer cell lectin-like receptor subfamily C, member 1
|
|
KLRC2
|
killer cell lectin-like receptor subfamily C, member 2
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT12
|
keratin 12, type I
|
|
LBP
|
lipopolysaccharide binding protein
|
|
LDLR
|
low density lipoprotein receptor
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MFN2
|
mitofusin 2
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP7
|
matrix metallopeptidase 7
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MT-TV
|
tRNA
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NAMPT
|
nicotinamide phosphoribosyltransferase
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH3
|
notch 3
|
|
NPPB
|
natriuretic peptide B
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAPPA
|
pregnancy-associated plasma protein A, pappalysin 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX6
|
paired box 6
|
|
PCDH19
|
protocadherin 19
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDCD1
|
programmed cell death 1
|
|
PDCD10
|
programmed cell death 10
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLAT
|
plasminogen activator, tissue
|
|
PLEKHG4
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PSEN1
|
presenilin 1
|
|
RAP1A
|
RAP1A, member of RAS oncogene family
|
|
RB1
|
retinoblastoma 1
|
|
RET
|
ret proto-oncogene
|
|
RNASE2
|
ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)
|
|
RPRM
|
reprimo, TP53 dependent G2 arrest mediator candidate
|
|
S100B
|
S100 calcium binding protein B
|
|
SCGB1A1
|
secretoglobin, family 1A, member 1 (uteroglobin)
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDC1
|
syndecan 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SERPINA12
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
|
|
SERPIND1
|
serpin peptidase inhibitor, clade D (heparin cofactor), member 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPP1
|
secreted phosphoprotein 1
|
|
STX16
|
syntaxin 16
|
|
TFPI
|
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
|
|
TGFA
|
transforming growth factor, alpha
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THBD
|
thrombomodulin
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TPSAB1
|
tryptase alpha/beta 1
|
|
TRD
|
T cell receptor delta locus
|
|
TRG
|
T cell receptor gamma locus
|
|
TRPV1
|
transient receptor potential cation channel, subfamily V, member 1
|
|
TTR
|
transthyretin
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
