| Symbol |
Name |
|
ACVR2B
|
activin A receptor, type IIB
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCND2
|
cyclin D2
|
|
CD96
|
CD96 molecule
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DSE
|
dermatan sulfate epimerase
|
|
DSG1
|
desmoglein 1
|
|
DTNA
|
dystrobrevin, alpha
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
ELN
|
elastin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNB
|
filamin B, beta
|
|
FOXC2
|
forkhead box C2
|
|
FOXF1
|
forkhead box F1
|
|
FTO
|
fat mass and obesity associated
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GDF1
|
growth differentiation factor 1
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPC6
|
glypican 6
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC8
|
histone deacetylase 8
|
|
HIRA
|
histone cell cycle regulator
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IFT172
|
intraflagellar transport 172
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KIAA0196
|
KIAA0196
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MED12
|
mediator complex subunit 12
|
|
MEIS2
|
Meis homeobox 2
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGP
|
matrix Gla protein
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NEK1
|
NIMA-related kinase 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NODAL
|
nodal growth differentiation factor
|
|
NOTCH2
|
notch 2
|
|
NR2F2
|
nuclear receptor subfamily 2, group F, member 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PALB2
|
partner and localizer of BRCA2
|
|
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
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIT1
|
Ras-like without CAAX 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPL15
|
ribosomal protein L15
|
|
RPL35A
|
ribosomal protein L35a
|
|
RPS19
|
ribosomal protein S19
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNX3
|
sorting nexin 3
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
STAMBP
|
STAM binding protein
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TP63
|
tumor protein p63
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC7A
|
tetratricopeptide repeat domain 7A
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UMPS
|
uridine monophosphate synthetase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDR60
|
WD repeat domain 60
|
|
WT1
|
Wilms tumor 1
|
|
XYLT1
|
xylosyltransferase I
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC3
|
Zic family member 3
|
