| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
ARSB
|
arylsulfatase B
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BPNT2
|
3'(2'), 5'-bisphosphate nucleotidase 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CA2
|
carbonic anhydrase II
|
|
CBS
|
cystathionine-beta-synthase
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
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
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DYM
|
dymeclin
|
|
DYNC2LI1
|
dynein, cytoplasmic 2, light intermediate chain 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
FBN1
|
fibrillin 1
|
|
FLNA
|
filamin A, alpha
|
|
FN1
|
fibronectin 1
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GAN
|
gigaxonin
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI1
|
GLI family zinc finger 1
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUSB
|
glucuronidase, beta
|
|
HBB
|
hemoglobin, beta
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IARS2
|
isoleucyl-tRNA synthetase 2, mitochondrial
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT57
|
intraflagellar transport 57
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
KLHL41
|
kelch-like family member 41
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMOD3
|
leiomodin 3 (fetal)
|
|
LONP1
|
lon peptidase 1, mitochondrial
|
|
LOXL3
|
lysyl oxidase-like 3
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MATN3
|
matrilin 3
|
|
MCTP2
|
multiple C2 domains, transmembrane 2
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MKRN3
|
makorin ring finger protein 3
|
|
MMP13
|
matrix metallopeptidase 13
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEB
|
nebulin
|
|
NF1
|
neurofibromin 1
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOTCH2
|
notch 2
|
|
NPAP1
|
nuclear pore associated protein 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PEPD
|
peptidase D
|
|
PTCH1
|
patched 1
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SETD2
|
SET domain containing 2
|
|
SFRP4
|
secreted frizzled-related protein 4
|
|
SHOX
|
short stature homeobox
|
|
SKI
|
SKI proto-oncogene
|
|
SLC10A7
|
solute carrier family 10, member 7
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SPART
|
spartin
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TONSL
|
tonsoku-like, DNA repair protein
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
