| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADRB1
|
adrenoceptor beta 1
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AKAP8
|
A kinase (PRKA) anchor protein 8
|
|
ALB
|
albumin
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ANGPT2
|
angiopoietin 2
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APOH
|
apolipoprotein H (beta-2-glycoprotein I)
|
|
APOL1
|
apolipoprotein L, 1
|
|
AQP9
|
aquaporin 9
|
|
AR
|
androgen receptor
|
|
ARF1
|
ADP-ribosylation factor 1
|
|
ARX
|
aristaless related homeobox
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
AURKC
|
aurora kinase C
|
|
AVP
|
arginine vasopressin
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BID
|
BH3 interacting domain death agonist
|
|
BLMH
|
bleomycin hydrolase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BSG
|
basigin (Ok blood group)
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
CAPN10
|
calpain 10
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASP9
|
caspase 9, apoptosis-related cysteine peptidase
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CCR2
|
chemokine (C-C motif) receptor 2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD14
|
CD14 molecule
|
|
CD209
|
CD209 molecule
|
|
CD22
|
CD22 molecule
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD8A
|
CD8a molecule
|
|
CDC20
|
cell division cycle 20
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
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)
|
|
CGB5
|
chorionic gonadotropin, beta polypeptide 5
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
COMT
|
catechol-O-methyltransferase
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CSH1
|
chorionic somatomammotropin hormone 1 (placental lactogen)
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYFIP2
|
cytoplasmic FMR1 interacting protein 2
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2A6
|
cytochrome P450, family 2, subfamily A, polypeptide 6
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP3A5
|
cytochrome P450, family 3, subfamily A, polypeptide 5
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DAPK1
|
death-associated protein kinase 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DEFB103B
|
defensin, beta 103B
|
|
DMD
|
dystrophin
|
|
DRD2
|
dopamine receptor D2
|
|
DRD4
|
dopamine receptor D4
|
|
DSC2
|
desmocollin 2
|
|
DYNLRB1
|
dynein, light chain, roadblock-type 1
|
|
DYSF
|
dysferlin
|
|
EMD
|
emerin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAAH
|
fatty acid amide hydrolase
|
|
FASN
|
fatty acid synthase
|
|
FDPS
|
farnesyl diphosphate synthase
|
|
FLG
|
filaggrin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXO3
|
forkhead box O3
|
|
FOXP3
|
forkhead box P3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GBA
|
glucosidase, beta, acid
|
|
GHRL
|
ghrelin/obestatin prepropeptide
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJD2
|
gap junction protein, delta 2, 36kDa
|
|
GNAS
|
GNAS complex locus
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
GSTM2
|
glutathione S-transferase mu 2 (muscle)
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GSTT2
|
glutathione S-transferase theta 2 (gene/pseudogene)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GZMM
|
granzyme M (lymphocyte met-ase 1)
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBD
|
hemoglobin, delta
|
|
HBE1
|
hemoglobin, epsilon 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMOX1
|
heme oxygenase 1
|
|
HPR
|
haptoglobin-related protein
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPA1B
|
heat shock 70kDa protein 1B
|
|
HTT
|
huntingtin
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL1B
|
interleukin 1, beta
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL6
|
interleukin 6
|
|
INS
|
insulin
|
|
KCNE3
|
potassium channel, voltage gated subfamily E regulatory beta subunit 3
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KIF6
|
kinesin family member 6
|
|
KIR2DL4
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
|
|
KIR3DL2
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
|
|
KIR3DL3
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
|
|
KL
|
klotho
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LCN1
|
lipocalin 1
|
|
LGALS3
|
lectin, galactoside-binding, soluble, 3
|
|
LPIN1
|
lipin 1
|
|
LPL
|
lipoprotein lipase
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTF
|
lactotransferrin
|
|
MAPK13
|
mitogen-activated protein kinase 13
|
|
MAPT
|
microtubule-associated protein tau
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MECR
|
mitochondrial trans-2-enoyl-CoA reductase
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MFN2
|
mitofusin 2
|
|
MOCS3
|
molybdenum cofactor synthesis 3
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MTCH2
|
mitochondrial carrier 2
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUC2
|
mucin 2, oligomeric mucus/gel-forming
|
|
MUC5AC
|
mucin 5AC, oligomeric mucus/gel-forming
|
|
MUTYH
|
mutY homolog
|
|
MVK
|
mevalonate kinase
|
|
MYO1B
|
myosin IB
|
|
MYO7A
|
myosin VIIA
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEB
|
nebulin
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH3
|
notch 3
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NRG1
|
neuregulin 1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OSCP1
|
organic solute carrier partner 1
|
|
OXSR1
|
oxidative stress responsive 1
|
|
OXTR
|
oxytocin receptor
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLAT
|
plasminogen activator, tissue
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLAUR
|
plasminogen activator, urokinase receptor
|
|
PLIN3
|
perilipin 3
|
|
PLP1
|
proteolipid protein 1
|
|
PODXL
|
podocalyxin-like
|
|
PON1
|
paraoxonase 1
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PPIB
|
peptidylprolyl isomerase B (cyclophilin B)
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRKCD
|
protein kinase C, delta
|
|
PSEN1
|
presenilin 1
|
|
PTGS1
|
prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PTK2
|
protein tyrosine kinase 2
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RET
|
ret proto-oncogene
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RXRA
|
retinoid X receptor, alpha
|
|
SCARB1
|
scavenger receptor class B, member 1
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCP2
|
sterol carrier protein 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGK1
|
serum/glucocorticoid regulated kinase 1
|
|
SGK3
|
serum/glucocorticoid regulated kinase family, member 3
|
|
SLC10A5
|
solute carrier family 10, member 5
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC13A2
|
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
|
|
SLC19A1
|
solute carrier family 19 (folate transporter), member 1
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC1A7
|
solute carrier family 1 (glutamate transporter), member 7
|
|
SLC22A25
|
solute carrier family 22, member 25
|
|
SLC22A4
|
solute carrier family 22 (organic cation/zwitterion transporter), member 4
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC22A6
|
solute carrier family 22 (organic anion transporter), member 6
|
|
SLC22A9
|
solute carrier family 22 (organic anion transporter), member 9
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A11
|
solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A17
|
solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A2
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2
|
|
SLC25A23
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
|
|
SLC25A24
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
|
|
SLC25A25
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25
|
|
SLC25A33
|
solute carrier family 25 (pyrimidine nucleotide carrier), member 33
|
|
SLC25A47
|
solute carrier family 25, member 47
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A7
|
solute carrier family 26 (anion exchanger), member 7
|
|
SLC2A8
|
solute carrier family 2 (facilitated glucose transporter), member 8
|
|
SLC36A1
|
solute carrier family 36 (proton/amino acid symporter), member 1
|
|
SLC41A1
|
solute carrier family 41 (magnesium transporter), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A14
|
solute carrier family 6 (amino acid transporter), member 14
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A4
|
solute carrier family 7, member 4
|
|
SLC7A5
|
solute carrier family 7 (amino acid transporter light chain, L system), member 5
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLC9A7
|
solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
|
|
SLCO2B1
|
solute carrier organic anion transporter family, member 2B1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SP1
|
Sp1 transcription factor
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
STARD5
|
StAR-related lipid transfer (START) domain containing 5
|
|
TARDBP
|
TAR DNA binding protein
|
|
TF
|
transferrin
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TFAP2C
|
transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TLR4
|
toll-like receptor 4
|
|
TNF
|
tumor necrosis factor
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TTR
|
transthyretin
|
|
TYMP
|
thymidine phosphorylase
|
|
UBE2C
|
ubiquitin-conjugating enzyme E2C
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
URM1
|
ubiquitin related modifier 1
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VSX2
|
visual system homeobox 2
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
XCL2
|
chemokine (C motif) ligand 2
|
|
YWHAG
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
|
