| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACOT13
|
acyl-CoA thioesterase 13
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAM12
|
ADAM metallopeptidase domain 12
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA1A
|
adrenoceptor alpha 1A
|
|
ADRB1
|
adrenoceptor beta 1
|
|
AFP
|
alpha-fetoprotein
|
|
AHSG
|
alpha-2-HS-glycoprotein
|
|
AIG1
|
androgen-induced 1
|
|
ALB
|
albumin
|
|
ALDH1A1
|
aldehyde dehydrogenase 1 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALK
|
anaplastic lymphoma receptor tyrosine kinase
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
AMN
|
amnion associated transmembrane protein
|
|
AMOTL1
|
angiomotin like 1
|
|
ANLN
|
anillin, actin binding protein
|
|
APC
|
adenomatous polyposis coli
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARNTL
|
aryl hydrocarbon receptor nuclear translocator-like
|
|
ARRB1
|
arrestin, beta 1
|
|
ARX
|
aristaless related homeobox
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
AZF1
|
azoospermia factor 1
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BAIAP2L1
|
BAI1-associated protein 2-like 1
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BCHE
|
butyrylcholinesterase
|
|
BCL2L1
|
BCL2-like 1
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BIRC5
|
baculoviral IAP repeat containing 5
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP6
|
bone morphogenetic protein 6
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRD4
|
bromodomain containing 4
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
C3
|
complement component 3
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1H
|
calcium channel, voltage-dependent, T type, alpha 1H subunit
|
|
CADPS2
|
Ca++-dependent secretion activator 2
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
CALR
|
calreticulin
|
|
CAPN3
|
calpain 3, (p94)
|
|
CBS
|
cystathionine-beta-synthase
|
|
CD14
|
CD14 molecule
|
|
CD244
|
CD244 molecule, natural killer cell receptor 2B4
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH23
|
cadherin-related 23
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CGB
|
chorionic gonadotropin, beta polypeptide
|
|
CHD5
|
chromodomain helicase DNA binding protein 5
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHRM2
|
cholinergic receptor, muscarinic 2
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CKBE
|
creatine kinase, ectopic expression
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COX1
|
|
|
CPA5
|
carboxypeptidase A5
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CREM
|
cAMP responsive element modulator
|
|
CRTAP
|
cartilage associated protein
|
|
CSE1L
|
CSE1 chromosome segregation 1-like (yeast)
|
|
CSF1
|
colony stimulating factor 1 (macrophage)
|
|
CST3
|
cystatin C
|
|
CTNNA3
|
catenin (cadherin-associated protein), alpha 3
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTSD
|
cathepsin D
|
|
CTTN
|
cortactin
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CUX1
|
cut-like homeobox 1
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP2A13
|
cytochrome P450, family 2, subfamily A, polypeptide 13
|
|
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
|
|
CYP2E1
|
cytochrome P450, family 2, subfamily E, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAXX
|
death-domain associated protein
|
|
DEL22Q11.2
|
Chromosome 22q11.2 deletion syndrome, distal
|
|
DES
|
desmin
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DMD
|
dystrophin
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DNASE1L1
|
deoxyribonuclease I-like 1
|
|
DOCK3
|
dedicator of cytokinesis 3
|
|
DOK7
|
docking protein 7
|
|
DPEP1
|
dipeptidase 1 (renal)
|
|
DPP4
|
dipeptidyl-peptidase 4
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYSF
|
dysferlin
|
|
ECE2
|
endothelin converting enzyme 2
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EFNB1
|
ephrin-B1
|
|
EFNB2
|
ephrin-B2
|
|
EGFR
|
epidermal growth factor receptor
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F11
|
coagulation factor XI
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FBN1
|
fibrillin 1
|
|
FBXW4
|
F-box and WD repeat domain containing 4
|
|
FCER1A
|
Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
|
|
FCGR1A
|
Fc fragment of IgG, high affinity Ia, receptor (CD64)
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FCGR2B
|
Fc fragment of IgG, low affinity IIb, receptor (CD32)
|
|
FCGRT
|
Fc fragment of IgG, receptor, transporter, alpha
|
|
FDFT1
|
farnesyl-diphosphate farnesyltransferase 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGFR4
|
fibroblast growth factor receptor 4
|
|
FGFRL1
|
fibroblast growth factor receptor-like 1
|
|
FGG
|
fibrinogen gamma chain
|
|
FLG
|
filaggrin
|
|
FLNA
|
filamin A, alpha
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXC2
|
forkhead box C2
|
|
FOXP3
|
forkhead box P3
|
|
FRMD7
|
FERM domain containing 7
|
|
FTO
|
fat mass and obesity associated
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
FZD4
|
frizzled class receptor 4
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GADD45A
|
growth arrest and DNA-damage-inducible, alpha
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GATA2
|
GATA binding protein 2
|
|
GATA6
|
GATA binding protein 6
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDF15
|
growth differentiation factor 15
|
|
GDF6
|
growth differentiation factor 6
|
|
GDF9
|
growth differentiation factor 9
|
|
GH1
|
growth hormone 1
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNB5
|
guanine nucleotide binding protein (G protein), beta 5
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GOLGA3
|
golgin A3
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GPR180
|
G protein-coupled receptor 180
|
|
GPR35
|
G protein-coupled receptor 35
|
|
GPX4
|
glutathione peroxidase 4
|
|
GRN
|
granulin
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYPB
|
glycophorin B (MNS blood group)
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
H2AFX
|
H2A histone family, member X
|
|
HAVCR1
|
hepatitis A virus cellular receptor 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBE1
|
hemoglobin, epsilon 1
|
|
HCP5
|
HLA complex P5 (non-protein coding)
|
|
HFE
|
hemochromatosis
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HHIP
|
hedgehog interacting protein
|
|
HK1
|
hexokinase 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMX1
|
H6 family homeobox 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPBP1
|
HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
|
|
HSPE1
|
heat shock 10kDa protein 1
|
|
HTT
|
huntingtin
|
|
IAPP
|
islet amyloid polypeptide
|
|
ICOSLG
|
inducible T-cell co-stimulator ligand
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFNG
|
interferon, gamma
|
|
IFT140
|
intraflagellar transport 140
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGFBP7
|
insulin-like growth factor binding protein 7
|
|
IKBKB
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
|
|
IL1B
|
interleukin 1, beta
|
|
IL34
|
interleukin 34
|
|
IL6
|
interleukin 6
|
|
INHBA
|
inhibin, beta A
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRF7
|
interferon regulatory factor 7
|
|
IRS3P
|
insulin receptor substrate 3, pseudogene
|
|
ISCA1
|
iron-sulfur cluster assembly 1
|
|
ITPA
|
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAK2
|
Janus kinase 2
|
|
JAK3
|
Janus kinase 3
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KEL
|
Kell blood group, metallo-endopeptidase
|
|
KIF5B
|
kinesin family member 5B
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LCN2
|
lipocalin 2
|
|
LDHA
|
lactate dehydrogenase A
|
|
LDHB
|
lactate dehydrogenase B
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEP
|
leptin
|
|
LGALS13
|
lectin, galactoside-binding, soluble, 13
|
|
LGI4
|
leucine-rich repeat LGI family, member 4
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LIPG
|
lipase, endothelial
|
|
LPL
|
lipoprotein lipase
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTB4R
|
leukotriene B4 receptor
|
|
MAP1B
|
microtubule-associated protein 1B
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAP3K8
|
mitogen-activated protein kinase kinase kinase 8
|
|
MAPT
|
microtubule-associated protein tau
|
|
MAST3
|
microtubule associated serine/threonine kinase 3
|
|
MB
|
myoglobin
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEIS1
|
Meis homeobox 1
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MEST
|
mesoderm specific transcript
|
|
MGMT
|
O-6-methylguanine-DNA methyltransferase
|
|
MIA
|
melanoma inhibitory activity
|
|
MIR129-1
|
microRNA 129-1
|
|
MIR129-2
|
microRNA 129-2
|
|
MIR150
|
microRNA 150
|
|
MIR34B
|
microRNA 34b
|
|
MIR34C
|
microRNA 34c
|
|
MLH1
|
mutL homolog 1
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP7
|
matrix metallopeptidase 7
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPO
|
myeloperoxidase
|
|
MPZ
|
myelin protein zero
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSX1
|
msh homeobox 1
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-TW
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC16
|
mucin 16, cell surface associated
|
|
MUTYH
|
mutY homolog
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO7A
|
myosin VIIA
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NCDN
|
neurochondrin
|
|
NCOA4
|
nuclear receptor coactivator 4
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NKX2-5
|
NK2 homeobox 5
|
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NLRP3
|
NLR family, pyrin domain containing 3
|
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NMUR2
|
neuromedin U receptor 2
|
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NOD2
|
nucleotide-binding oligomerization domain containing 2
|
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NOTCH3
|
notch 3
|
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NPBWR1
|
neuropeptides B/W receptor 1
|
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NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
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NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
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NPPA
|
natriuretic peptide A
|
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NPPB
|
natriuretic peptide B
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NQO1
|
NAD(P)H dehydrogenase, quinone 1
|
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NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
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NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
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NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
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NRL
|
neural retina leucine zipper
|
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NRXN1
|
neurexin 1
|
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NRXN3
|
neurexin 3
|
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NSD1
|
nuclear receptor binding SET domain protein 1
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NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
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NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
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NUB1
|
negative regulator of ubiquitin-like proteins 1
|
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NUP98
|
nucleoporin 98kDa
|
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OFD1
|
oral-facial-digital syndrome 1
|
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OTC
|
ornithine carbamoyltransferase
|
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OTOF
|
otoferlin
|
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OTP
|
orthopedia homeobox
|
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P3H1
|
prolyl 3-hydroxylase 1
|
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PAH
|
phenylalanine hydroxylase
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PANK2
|
pantothenate kinase 2
|
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PAPPA
|
pregnancy-associated plasma protein A, pappalysin 1
|
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PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
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PARP1
|
poly (ADP-ribose) polymerase 1
|
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PAX3
|
paired box 3
|
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PAX6
|
paired box 6
|
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PBK
|
PDZ binding kinase
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PCA3
|
prostate cancer associated 3 (non-protein coding)
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PCDH15
|
protocadherin-related 15
|
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PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
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PCTP
|
phosphatidylcholine transfer protein
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PDE4D
|
phosphodiesterase 4D, cAMP-specific
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PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
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PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
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PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
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PDLIM1
|
PDZ and LIM domain 1
|
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PDZK1
|
PDZ domain containing 1
|
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PDZK1IP1
|
PDZK1 interacting protein 1
|
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PEX2
|
peroxisomal biogenesis factor 2
|
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PGC
|
progastricsin (pepsinogen C)
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PGF
|
placental growth factor
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PGR
|
progesterone receptor
|
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PHEX
|
phosphate regulating endopeptidase homolog, X-linked
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PHF6
|
PHD finger protein 6
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PI4KA
|
phosphatidylinositol 4-kinase, catalytic, alpha
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PI4KB
|
phosphatidylinositol 4-kinase, catalytic, beta
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PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
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PISD
|
phosphatidylserine decarboxylase
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PKD1
|
polycystic kidney disease 1 (autosomal dominant)
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PKD2
|
polycystic kidney disease 2 (autosomal dominant)
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PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
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PKM
|
pyruvate kinase, muscle
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PLAC4
|
placenta-specific 4
|
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PLK1
|
polo-like kinase 1
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PMM2
|
phosphomannomutase 2
|
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PMP22
|
peripheral myelin protein 22
|
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PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
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POLH
|
polymerase (DNA directed), eta
|
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POU4F1
|
POU class 4 homeobox 1
|
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PPME1
|
protein phosphatase methylesterase 1
|
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PPP1CB
|
protein phosphatase 1, catalytic subunit, beta isozyme
|
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PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
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PRNP
|
prion protein
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PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
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PROS1
|
protein S (alpha)
|
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PRPH2
|
peripherin 2 (retinal degeneration, slow)
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PRSS2
|
protease, serine, 2 (trypsin 2)
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PTCH1
|
patched 1
|
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PTEN
|
phosphatase and tensin homolog
|
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PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
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PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
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PTS
|
6-pyruvoyltetrahydropterin synthase
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PYCR1
|
pyrroline-5-carboxylate reductase 1
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QPRT
|
quinolinate phosphoribosyltransferase
|
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RAB3A
|
RAB3A, member RAS oncogene family
|
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RAB5A
|
RAB5A, member RAS oncogene family
|
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RAD51
|
RAD51 recombinase
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RAD51D
|
RAD51 paralog D
|
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RAI1
|
retinoic acid induced 1
|
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RALGDS
|
ral guanine nucleotide dissociation stimulator
|
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RANGRF
|
RAN guanine nucleotide release factor
|
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RAPSN
|
receptor-associated protein of the synapse
|
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RASEF
|
RAS and EF-hand domain containing
|
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RB1
|
retinoblastoma 1
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RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
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RCHY1
|
ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase
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RCOR1
|
REST corepressor 1
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REN
|
renin
|
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RET
|
ret proto-oncogene
|
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RGN
|
regucalcin
|
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RHO
|
rhodopsin
|
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RIPK1
|
receptor (TNFRSF)-interacting serine-threonine kinase 1
|
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RNR1
|
RNA, ribosomal cluster 1
|
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RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
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RPGR
|
retinitis pigmentosa GTPase regulator
|
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RPS6KA2
|
ribosomal protein S6 kinase, 90kDa, polypeptide 2
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RS1
|
retinoschisin 1
|
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RYR1
|
ryanodine receptor 1 (skeletal)
|
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RYR2
|
ryanodine receptor 2 (cardiac)
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S100A8
|
S100 calcium binding protein A8
|
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S100A9
|
S100 calcium binding protein A9
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S100B
|
S100 calcium binding protein B
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S100P
|
S100 calcium binding protein P
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SCGB2A1
|
secretoglobin, family 2A, member 1
|
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SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
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SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
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SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
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SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
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SEPT9
|
septin 9
|
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SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
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SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
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SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
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SEZ6
|
seizure related 6 homolog (mouse)
|
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SFRP2
|
secreted frizzled-related protein 2
|
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SFTPC
|
surfactant protein C
|
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SGCE
|
sarcoglycan, epsilon
|
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SH2D1A
|
SH2 domain containing 1A
|
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SH3D19
|
SH3 domain containing 19
|
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SHFM1
|
split hand/foot malformation (ectrodactyly) type 1
|
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SHH
|
sonic hedgehog
|
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SHOX
|
short stature homeobox
|
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SIX1
|
SIX homeobox 1
|
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SIX5
|
SIX homeobox 5
|
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SKA3
|
spindle and kinetochore associated complex subunit 3
|
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SLBP
|
stem-loop binding protein
|
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SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
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SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
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SLC15A1
|
solute carrier family 15 (oligopeptide transporter), member 1
|
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SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
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SLC22A4
|
solute carrier family 22 (organic cation/zwitterion transporter), member 4
|
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SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
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SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
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SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
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SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
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SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
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SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
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SMN1
|
survival of motor neuron 1, telomeric
|
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SMN2
|
survival of motor neuron 2, centromeric
|
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SNAI1
|
snail family zinc finger 1
|
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SNCAIP
|
synuclein, alpha interacting protein
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SON
|
SON DNA binding protein
|
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SORT1
|
sortilin 1
|
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SOX2
|
SRY (sex determining region Y)-box 2
|
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SPAST
|
spastin
|
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SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SQSTM1
|
sequestosome 1
|
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STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
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STK11
|
serine/threonine kinase 11
|
|
SUMO1
|
small ubiquitin-like modifier 1
|
|
SYCP3
|
synaptonemal complex protein 3
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TARDBP
|
TAR DNA binding protein
|
|
TCF4
|
transcription factor 4
|
|
TECTA
|
tectorin alpha
|
|
TEK
|
TEK tyrosine kinase, endothelial
|
|
TF
|
transferrin
|
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TGFB1
|
transforming growth factor, beta 1
|
|
THBS1
|
thrombospondin 1
|
|
TLR2
|
toll-like receptor 2
|
|
TMEFF2
|
transmembrane protein with EGF-like and two follistatin-like domains 2
|
|
TMEM127
|
transmembrane protein 127
|
|
TMEM184B
|
transmembrane protein 184B
|
|
TMIE
|
transmembrane inner ear
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNFSF8
|
tumor necrosis factor (ligand) superfamily, member 8
|
|
TNIP1
|
TNFAIP3 interacting protein 1
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TOMM34
|
translocase of outer mitochondrial membrane 34
|
|
TP53
|
tumor protein p53
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TPO
|
thyroid peroxidase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM21
|
tripartite motif containing 21
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPM2
|
transient receptor potential cation channel, subfamily M, member 2
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPYL1
|
TSPY-like 1
|
|
TTR
|
transthyretin
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBIAD1
|
UbiA prenyltransferase domain containing 1
|
|
UCP2
|
uncoupling protein 2 (mitochondrial, proton carrier)
|
|
UPK1B
|
uroplakin 1B
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCAN
|
versican
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIM
|
vimentin
|
|
VKORC1
|
vitamin K epoxide reductase complex, subunit 1
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDR1
|
WD repeat domain 1
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
YBX1
|
Y box binding protein 1
|
|
ZDHHC1
|
zinc finger, DHHC-type containing 1
|
|
ZDHHC11
|
zinc finger, DHHC-type containing 11
|
|
ZDHHC3
|
zinc finger, DHHC-type containing 3
|
|
ZIC2
|
Zic family member 2
|
