| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACAN
|
aggrecan
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTSK
|
cathepsin K
|
|
CUL7
|
cullin 7
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DYM
|
dymeclin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
ERF
|
Ets2 repressor factor
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FNBP4
|
formin binding protein 4
|
|
FOXC1
|
forkhead box C1
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GLI2
|
GLI family zinc finger 2
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC6
|
glypican 6
|
|
GSC
|
goosecoid homeobox
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC4
|
histone deacetylase 4
|
|
HIRA
|
histone cell cycle regulator
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LARP7
|
La ribonucleoprotein domain family, member 7
|
|
LBR
|
lamin B receptor
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
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
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MGP
|
matrix Gla protein
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NOTCH2
|
notch 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OBSL1
|
obscurin-like 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX3
|
paired box 3
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
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
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SATB2
|
SATB homeobox 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
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
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SMAD4
|
SMAD family member 4
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SP7
|
Sp7 transcription factor
|
|
SULF1
|
sulfatase 1
|
|
TAT
|
tyrosine aminotransferase
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX22
|
T-box 22
|
|
TBX4
|
T-box 4
|
|
TCF12
|
transcription factor 12
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM237
|
transmembrane protein 237
|
|
TP63
|
tumor protein p63
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
