| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAN
|
aggrecan
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACVR1
|
activin A receptor, type I
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGPS
|
alkylglycerone phosphate synthase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANO5
|
anoctamin 5
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARSB
|
arylsulfatase B
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B2M
|
beta-2-microglobulin
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CA2
|
carbonic anhydrase II
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDC6
|
cell division cycle 6
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRTAP
|
cartilage associated protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSK
|
cathepsin K
|
|
CUL7
|
cullin 7
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DOK7
|
docking protein 7
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFNB1
|
ephrin-B1
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
EP300
|
E1A binding protein p300
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GDF5
|
growth differentiation factor 5
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAS
|
GNAS complex locus
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPC3
|
glypican 3
|
|
GPC6
|
glypican 6
|
|
GPX4
|
glutathione peroxidase 4
|
|
GSC
|
goosecoid homeobox
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HBB
|
hemoglobin, beta
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HOXA11
|
homeobox A11
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IHH
|
indian hedgehog
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
JAG1
|
jagged 1
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBR1
|
limb development membrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LPIN2
|
lipin 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MATN3
|
matrilin 3
|
|
MED12
|
mediator complex subunit 12
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGP
|
matrix Gla protein
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK8
|
NIMA-related kinase 8
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PCNT
|
pericentrin
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEPD
|
peptidase D
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLEKHM1
|
pleckstrin homology domain containing, family M (with RUN domain) member 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
POC1A
|
POC1 centriolar protein A
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM5
|
PR domain containing 5
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL26
|
ribosomal protein L26
|
|
RPS19
|
ribosomal protein S19
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHH
|
sonic hedgehog
|
|
SHOX
|
short stature homeobox
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNX10
|
sorting nexin 10
|
|
SOST
|
sclerostin
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SQSTM1
|
sequestosome 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SULF1
|
sulfatase 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX2
|
T-box 2
|
|
TBX3
|
T-box 3
|
|
TBX4
|
T-box 4
|
|
TBX5
|
T-box 5
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
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TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
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TRAPPC2
|
trafficking protein particle complex 2
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TREM2
|
triggering receptor expressed on myeloid cells 2
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TRIP11
|
thyroid hormone receptor interactor 11
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TRPS1
|
trichorhinophalangeal syndrome I
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TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
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TTC21B
|
tetratricopeptide repeat domain 21B
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TYROBP
|
TYRO protein tyrosine kinase binding protein
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USP9X
|
ubiquitin specific peptidase 9, X-linked
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VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
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VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
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WDPCP
|
WD repeat containing planar cell polarity effector
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WDR19
|
WD repeat domain 19
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WDR34
|
WD repeat domain 34
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WDR35
|
WD repeat domain 35
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WDR60
|
WD repeat domain 60
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WISP3
|
WNT1 inducible signaling pathway protein 3
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WNK1
|
WNK lysine deficient protein kinase 1
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WNT5A
|
wingless-type MMTV integration site family, member 5A
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WNT7A
|
wingless-type MMTV integration site family, member 7A
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XYLT1
|
xylosyltransferase I
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ZBTB16
|
zinc finger and BTB domain containing 16
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ZBTB20
|
zinc finger and BTB domain containing 20
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ZIC3
|
Zic family member 3
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ZMPSTE24
|
zinc metallopeptidase STE24
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ZNF469
|
zinc finger protein 469
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