| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CD96
|
CD96 molecule
|
|
CDC6
|
cell division cycle 6
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL27A1
|
collagen, type XXVII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLEC11
|
collectin sub-family member 11
|
|
COMT
|
catechol-O-methyltransferase
|
|
CREBBP
|
CREB binding protein
|
|
CUL7
|
cullin 7
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DYM
|
dymeclin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
EXOSC3
|
exosome component 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
GDF5
|
growth differentiation factor 5
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC6
|
glypican 6
|
|
GPHN
|
gephyrin
|
|
GSC
|
goosecoid homeobox
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HIRA
|
histone cell cycle regulator
|
|
HOXA11
|
homeobox A11
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IFITM5
|
interferon induced transmembrane protein 5
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KIF22
|
kinesin family member 22
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
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
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEPN1
|
selenoprotein N, 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHOX
|
short stature homeobox
|
|
SHROOM4
|
shroom family member 4
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX15
|
T-box 15
|
|
TBX4
|
T-box 4
|
|
TCTN3
|
tectonic family member 3
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TNXB
|
tenascin XB
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XYLT1
|
xylosyltransferase I
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF469
|
zinc finger protein 469
|
