| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARSB
|
arylsulfatase B
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CA2
|
carbonic anhydrase II
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CBS
|
cystathionine-beta-synthase
|
|
CDC6
|
cell division cycle 6
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
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
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
COMT
|
catechol-O-methyltransferase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DYM
|
dymeclin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
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
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GDF5
|
growth differentiation factor 5
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC6
|
glypican 6
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HBB
|
hemoglobin, beta
|
|
HIRA
|
histone cell cycle regulator
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT172
|
intraflagellar transport 172
|
|
IHH
|
indian hedgehog
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF22
|
kinesin family member 22
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MATN3
|
matrilin 3
|
|
MCOLN1
|
mucolipin 1
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOTCH2
|
notch 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PEPD
|
peptidase D
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP1
|
receptor accessory protein 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RTN2
|
reticulon 2
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHOX
|
short stature homeobox
|
|
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
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SMAD3
|
SMAD family member 3
|
|
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
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SULF1
|
sulfatase 1
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCTN3
|
tectonic family member 3
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XYLT1
|
xylosyltransferase I
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
|
ZNF592
|
zinc finger protein 592
|
