| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGPS
|
alkylglycerone phosphate synthase
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARSB
|
arylsulfatase B
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
CA2
|
carbonic anhydrase II
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CDC6
|
cell division cycle 6
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
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
|
|
CREBBP
|
CREB binding protein
|
|
CTSK
|
cathepsin K
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FBN1
|
fibrillin 1
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GDF5
|
growth differentiation factor 5
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPX4
|
glutathione peroxidase 4
|
|
GUSB
|
glucuronidase, beta
|
|
HOXA13
|
homeobox A13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT80
|
intraflagellar transport 80
|
|
IHH
|
indian hedgehog
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF22
|
kinesin family member 22
|
|
KIF7
|
kinesin family member 7
|
|
LBR
|
lamin B receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MATN3
|
matrilin 3
|
|
MGP
|
matrix Gla protein
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOG
|
noggin
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPR2
|
natriuretic peptide receptor 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
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
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
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
POC1A
|
POC1 centriolar protein A
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM5
|
PR domain containing 5
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RET
|
ret proto-oncogene
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SHOX
|
short stature homeobox
|
|
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
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNX10
|
sorting nexin 10
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMEM165
|
transmembrane protein 165
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR60
|
WD repeat domain 60
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
XYLT1
|
xylosyltransferase I
|
|
ZNF469
|
zinc finger protein 469
|
