| Symbol |
Name |
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADRA1A
|
adrenoceptor alpha 1A
|
|
ADRBK1
|
adrenergic, beta, receptor kinase 1
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ATF4
|
activating transcription factor 4
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN2
|
ataxin 2
|
|
BAGE2
|
B melanoma antigen family, member 2
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BIN1
|
bridging integrator 1
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
CCL3L1
|
chemokine (C-C motif) ligand 3-like 1
|
|
CCND1
|
cyclin D1
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CFHR1
|
complement factor H-related 1
|
|
CFHR3
|
complement factor H-related 3
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CORO1C
|
coronin, actin binding protein, 1C
|
|
CR1
|
complement component (3b/4b) receptor 1 (Knops blood group)
|
|
CREBBP
|
CREB binding protein
|
|
CSF3
|
colony stimulating factor 3 (granulocyte)
|
|
CSNK2A1
|
casein kinase 2, alpha 1 polypeptide
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNA3
|
catenin (cadherin-associated protein), alpha 3
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
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
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
CYP4F2
|
cytochrome P450, family 4, subfamily F, polypeptide 2
|
|
DDIT3
|
DNA-damage-inducible transcript 3
|
|
DEL22Q11.2
|
Chromosome 22q11.2 deletion syndrome, distal
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EGFR
|
epidermal growth factor receptor
|
|
EPO
|
erythropoietin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESR1
|
estrogen receptor 1
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FABP2
|
fatty acid binding protein 2, intestinal
|
|
FCGR3B
|
Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXG1
|
forkhead box G1
|
|
FYN
|
FYN proto-oncogene, Src family tyrosine kinase
|
|
GBA
|
glucosidase, beta, acid
|
|
GRN
|
granulin
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HAND1
|
heart and neural crest derivatives expressed 1
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTR3A
|
5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IRS1
|
insulin receptor substrate 1
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
JUN
|
jun proto-oncogene
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDR
|
kinase insert domain receptor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LCE3B
|
late cornified envelope 3B
|
|
LCE3C
|
late cornified envelope 3C
|
|
LEP
|
leptin
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LMBR1
|
limb development membrane protein 1
|
|
LRIG1
|
leucine-rich repeats and immunoglobulin-like domains 1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MALT1
|
MALT1 paracaspase
|
|
MAPK14
|
mitogen-activated protein kinase 14
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED25
|
mediator complex subunit 25
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDEL1
|
nudE neurodevelopment protein 1-like 1
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NOTCH1
|
notch 1
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NUP153
|
nucleoporin 153kDa
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PRL
|
prolactin
|
|
PRNP
|
prion protein
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
RET
|
ret proto-oncogene
|
|
RUNX1
|
runt-related transcription factor 1
|
|
S100A8
|
S100 calcium binding protein A8
|
|
SELPLG
|
selectin P ligand
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SHOX
|
short stature homeobox
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC30A8
|
solute carrier family 30 (zinc transporter), member 8
|
|
SMAD3
|
SMAD family member 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SPANXB1
|
SPANX family, member B1
|
|
SPANXC
|
SPANX family, member C
|
|
SPAST
|
spastin
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TACC3
|
transforming, acidic coiled-coil containing protein 3
|
|
TCF12
|
transcription factor 12
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TOP2A
|
topoisomerase (DNA) II alpha 170kDa
|
|
TP53
|
tumor protein p53
|
|
TPTE
|
transmembrane phosphatase with tensin homology
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
VCAN
|
versican
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZMAT4
|
zinc finger, matrin-type 4
|
