| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAN
|
aggrecan
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGPS
|
alkylglycerone phosphate synthase
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CDC6
|
cell division cycle 6
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CREBBP
|
CREB binding protein
|
|
CRTAP
|
cartilage associated protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBN1
|
fibrillin 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF5
|
growth differentiation factor 5
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GPC6
|
glypican 6
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT140
|
intraflagellar transport 140
|
|
IHH
|
indian hedgehog
|
|
KIF22
|
kinesin family member 22
|
|
LBR
|
lamin B receptor
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MATN3
|
matrilin 3
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP9
|
matrix metallopeptidase 9
|
|
NEK8
|
NIMA-related kinase 8
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCNT
|
pericentrin
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PLEKHM1
|
pleckstrin homology domain containing, family M (with RUN domain) member 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
POC1A
|
POC1 centriolar protein A
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PRG4
|
proteoglycan 4
|
|
PSAP
|
prosaposin
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RET
|
ret proto-oncogene
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SERPINF1
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SHOX
|
short stature homeobox
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SULF1
|
sulfatase 1
|
|
TBX4
|
T-box 4
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WDR60
|
WD repeat domain 60
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XYLT1
|
xylosyltransferase I
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
