| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARSB
|
arylsulfatase B
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BMPER
|
BMP binding endothelial regulator
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDC6
|
cell division cycle 6
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
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
|
|
CRTAP
|
cartilage associated protein
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL7
|
cullin 7
|
|
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
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
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
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FBN1
|
fibrillin 1
|
|
FERMT1
|
fermitin family member 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GLB1
|
galactosidase, beta 1
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPX4
|
glutathione peroxidase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXD13
|
homeobox D13
|
|
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
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
IRF6
|
interferon regulatory factor 6
|
|
JAG1
|
jagged 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIAA0196
|
KIAA0196
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LHX1
|
LIM homeobox 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MATN3
|
matrilin 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MGP
|
matrix Gla protein
|
|
MMP13
|
matrix metallopeptidase 13
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NEK1
|
NIMA-related kinase 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOG
|
noggin
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PAX3
|
paired box 3
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM16
|
PR domain containing 16
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS19
|
ribosomal protein S19
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SMAD4
|
SMAD family member 4
|
|
SNX10
|
sorting nexin 10
|
|
SOST
|
sclerostin
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX5
|
T-box 5
|
|
TBX6
|
T-box 6
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
