| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADCYAP1R1
|
adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
|
|
ADD1
|
adducin 1 (alpha)
|
|
ADH1C
|
alcohol dehydrogenase 1C (class I), gamma polypeptide
|
|
AHRR
|
aryl-hydrocarbon receptor repressor
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALOX15
|
arachidonate 15-lipoxygenase
|
|
AMELY
|
amelogenin, Y-linked
|
|
APOA5
|
apolipoprotein A-V
|
|
APOC3
|
apolipoprotein C-III
|
|
APOL1
|
apolipoprotein L, 1
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATM
|
ATM serine/threonine kinase
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BEST1
|
bestrophin 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
CA8
|
carbonic anhydrase VIII
|
|
CAMK2A
|
calcium/calmodulin-dependent protein kinase II alpha
|
|
CD247
|
CD247 molecule
|
|
CD3D
|
CD3d molecule, delta (CD3-TCR complex)
|
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CD8A
|
CD8a molecule
|
|
CDH23
|
cadherin-related 23
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CEACAM1
|
carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
|
|
CERKL
|
ceramide kinase-like
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CNTF
|
ciliary neurotrophic factor
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL5A3
|
collagen, type V, alpha 3
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRTAP
|
cartilage associated protein
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
CYP2A6
|
cytochrome P450, family 2, subfamily A, polypeptide 6
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
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
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DHFR
|
dihydrofolate reductase
|
|
DLK1
|
delta-like 1 homolog (Drosophila)
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DRD4
|
dopamine receptor D4
|
|
DYSF
|
dysferlin
|
|
EGFR
|
epidermal growth factor receptor
|
|
EPHA1
|
EPH receptor A1
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FECH
|
ferrochelatase
|
|
FERMT1
|
fermitin family member 1
|
|
FEV
|
FEV (ETS oncogene family)
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGG
|
fibrinogen gamma chain
|
|
FLG
|
filaggrin
|
|
FXN
|
frataxin
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLTP
|
glycolipid transfer protein
|
|
GNAI1
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1
|
|
GNAS
|
GNAS complex locus
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GRN
|
granulin
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
GSTA4
|
glutathione S-transferase alpha 4
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GSTM2
|
glutathione S-transferase mu 2 (muscle)
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
HAND2
|
heart and neural crest derivatives expressed 2
|
|
HDAC6
|
histone deacetylase 6
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
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-C
|
major histocompatibility complex, class I, C
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HSD3B1
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
|
HYAL3
|
hyaluronoglucosaminidase 3
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IFNL3
|
interferon, lambda 3
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
JUNB
|
jun B proto-oncogene
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KEL
|
Kell blood group, metallo-endopeptidase
|
|
KIR2DS2
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
|
|
KIR2DS4
|
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
|
|
KLF3
|
Kruppel-like factor 3 (basic)
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LGALS3
|
lectin, galactoside-binding, soluble, 3
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LRRFIP1
|
leucine rich repeat (in FLII) interacting protein 1
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAN1A1
|
mannosidase, alpha, class 1A, member 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAN1C1
|
mannosidase, alpha, class 1C, member 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MNDA
|
myeloid cell nuclear differentiation antigen
|
|
MPZ
|
myelin protein zero
|
|
MSRB3
|
methionine sulfoxide reductase B3
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYO7A
|
myosin VIIA
|
|
MYOD1
|
myogenic differentiation 1
|
|
NAT1
|
N-acetyltransferase 1 (arylamine N-acetyltransferase)
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NQO1
|
NAD(P)H dehydrogenase, quinone 1
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NTF3
|
neurotrophin 3
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PKP1
|
plakophilin 1
|
|
PLA2G7
|
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
|
|
POLI
|
polymerase (DNA directed) iota
|
|
PON1
|
paraoxonase 1
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRG4
|
proteoglycan 4
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RCHY1
|
ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RELA
|
v-rel avian reticuloendotheliosis viral oncogene homolog A
|
|
RTN4
|
reticulon 4
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SENP2
|
SUMO1/sentrin/SMT3 specific peptidase 2
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SIGLEC14
|
sialic acid binding Ig-like lectin 14
|
|
SLC14A1
|
solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SPAST
|
spastin
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPRN
|
shadow of prion protein homolog (zebrafish)
|
|
SULT1A1
|
sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
|
|
TBX6
|
T-box 6
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
THPO
|
thrombopoietin
|
|
TMEM8B
|
transmembrane protein 8B
|
|
TP53
|
tumor protein p53
|
|
TPT1
|
tumor protein, translationally-controlled 1
|
|
TRA
|
T cell receptor alpha locus
|
|
TRD
|
T cell receptor delta locus
|
|
TRG
|
T cell receptor gamma locus
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UGT2B17
|
UDP glucuronosyltransferase 2 family, polypeptide B17
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
|
ZC3H14
|
zinc finger CCCH-type containing 14
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
