| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC11
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 11
|
|
ABCC5
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACKR1
|
atypical chemokine receptor 1 (Duffy blood group)
|
|
ACTN3
|
actinin, alpha 3 (gene/pseudogene)
|
|
ADA
|
adenosine deaminase
|
|
ADCYAP1R1
|
adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
|
|
ADH1C
|
alcohol dehydrogenase 1C (class I), gamma polypeptide
|
|
ADH7
|
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
ADRB3
|
adrenoceptor beta 3
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
AMH
|
anti-Mullerian hormone
|
|
APOA1
|
apolipoprotein A-I
|
|
APOBEC3F
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F
|
|
APOE
|
apolipoprotein E
|
|
APOL1
|
apolipoprotein L, 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AR
|
androgen receptor
|
|
ARSB
|
arylsulfatase B
|
|
ATL1
|
atlastin GTPase 1
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BTC
|
betacellulin
|
|
C3
|
complement component 3
|
|
CASQ1
|
calsequestrin 1 (fast-twitch, skeletal muscle)
|
|
CD14
|
CD14 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CEBPB
|
CCAAT/enhancer binding protein (C/EBP), beta
|
|
CFH
|
complement factor H
|
|
CFHR5
|
complement factor H-related 5
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHRNA3
|
cholinergic receptor, nicotinic, alpha 3 (neuronal)
|
|
CHRNA5
|
cholinergic receptor, nicotinic, alpha 5 (neuronal)
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
COCH
|
cochlin
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRHBP
|
corticotropin releasing hormone binding protein
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP2A6
|
cytochrome P450, family 2, subfamily A, polypeptide 6
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C8
|
cytochrome P450, family 2, subfamily C, polypeptide 8
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
CYP2E1
|
cytochrome P450, family 2, subfamily E, polypeptide 1
|
|
CYP3A4
|
cytochrome P450, family 3, subfamily A, polypeptide 4
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
DNER
|
delta/notch-like EGF repeat containing
|
|
DPYSL2
|
dihydropyrimidinase-like 2
|
|
DRD2
|
dopamine receptor D2
|
|
DRD5
|
dopamine receptor D5
|
|
EDN1
|
endothelin 1
|
|
EDNRB
|
endothelin receptor type B
|
|
EGFR
|
epidermal growth factor receptor
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPHB2
|
EPH receptor B2
|
|
EPHX2
|
epoxide hydrolase 2, cytoplasmic
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERG
|
v-ets avian erythroblastosis virus E26 oncogene homolog
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
F9
|
coagulation factor IX
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FECH
|
ferrochelatase
|
|
FEV
|
FEV (ETS oncogene family)
|
|
FGF1
|
fibroblast growth factor 1 (acidic)
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKTN
|
fukutin
|
|
FLG2
|
filaggrin family member 2
|
|
FTO
|
fat mass and obesity associated
|
|
GIGYF2
|
GRB10 interacting GYF protein 2
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GRK4
|
G protein-coupled receptor kinase 4
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTO1
|
glutathione S-transferase omega 1
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
GSTT2
|
glutathione S-transferase theta 2 (gene/pseudogene)
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HFE
|
hemochromatosis
|
|
HHIP
|
hedgehog interacting protein
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-DRB3
|
major histocompatibility complex, class II, DR beta 3
|
|
HOMER1
|
homer scaffolding protein 1
|
|
HOMER2
|
homer scaffolding protein 2
|
|
HOXA10
|
homeobox A10
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HTR3B
|
5-hydroxytryptamine (serotonin) receptor 3B, ionotropic
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDS
|
iduronate 2-sulfatase
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IKZF3
|
IKAROS family zinc finger 3 (Aiolos)
|
|
IL13
|
interleukin 13
|
|
IL15
|
interleukin 15
|
|
IL15RA
|
interleukin 15 receptor, alpha
|
|
IL17A
|
interleukin 17A
|
|
IL2
|
interleukin 2
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL6
|
interleukin 6
|
|
INS
|
insulin
|
|
IRF1
|
interferon regulatory factor 1
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRF8
|
interferon regulatory factor 8
|
|
ISL1
|
ISL LIM homeobox 1
|
|
JAZF1
|
JAZF zinc finger 1
|
|
KCNMB1
|
potassium channel subfamily M regulatory beta subunit 1
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KIR2DL2
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
|
|
KIR2DL3
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
|
|
KIR2DL5A
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
|
|
KIR2DS1
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
|
|
KITLG
|
KIT ligand
|
|
KLF11
|
Kruppel-like factor 11
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMC1
|
laminin, gamma 1 (formerly LAMB2)
|
|
LDLR
|
low density lipoprotein receptor
|
|
LIPC
|
lipase, hepatic
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LPL
|
lipoprotein lipase
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTF
|
lactotransferrin
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MBTPS1
|
membrane-bound transcription factor peptidase, site 1
|
|
MC3R
|
melanocortin 3 receptor
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MIR182
|
microRNA 182
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPO
|
myeloperoxidase
|
|
MSH2
|
mutS homolog 2
|
|
MSR1
|
macrophage scavenger receptor 1
|
|
MSX1
|
msh homeobox 1
|
|
MT-TS1
|
tRNA
|
|
MTA1
|
metastasis associated 1
|
|
MUC7
|
mucin 7, secreted
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NGFR
|
nerve growth factor receptor
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOL11
|
nucleolar protein 11
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPPA
|
natriuretic peptide A
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OPRD1
|
opioid receptor, delta 1
|
|
ORMDL3
|
ORMDL sphingolipid biosynthesis regulator 3
|
|
PADI4
|
peptidyl arginine deiminase, type IV
|
|
PBX1
|
pre-B-cell leukemia homeobox 1
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDCD1
|
programmed cell death 1
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PGR
|
progesterone receptor
|
|
PHRF1
|
PHD and ring finger domains 1
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLA2G7
|
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
|
|
PON1
|
paraoxonase 1
|
|
PSMA6
|
proteasome (prosome, macropain) subunit, alpha type, 6
|
|
PSPHP1
|
phosphoserine phosphatase pseudogene 1
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTPN1
|
protein tyrosine phosphatase, non-receptor type 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAD51
|
RAD51 recombinase
|
|
RGS17
|
regulator of G-protein signaling 17
|
|
RNASEL
|
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
|
|
RNF10
|
ring finger protein 10
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RRP9
|
ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)
|
|
RTN4
|
reticulon 4
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SEMA7A
|
semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
|
|
SEPT9
|
septin 9
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SHBG
|
sex hormone-binding globulin
|
|
SLC16A11
|
solute carrier family 16, member 11
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC5A8
|
solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STX11
|
syntaxin 11
|
|
SYN3
|
synapsin III
|
|
TBX22
|
T-box 22
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TIRAP
|
toll-interleukin 1 receptor (TIR) domain containing adaptor protein
|
|
TLR1
|
toll-like receptor 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMEM39A
|
transmembrane protein 39A
|
|
TMPRSS2
|
transmembrane protease, serine 2
|
|
TNF
|
tumor necrosis factor
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TP53
|
tumor protein p53
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC22D3
|
TSC22 domain family, member 3
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VWF
|
von Willebrand factor
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZPBP2
|
zona pellucida binding protein 2
|
