| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACVR1
|
activin A receptor, type I
|
|
ADA
|
adenosine deaminase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ARSB
|
arylsulfatase B
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASR
|
calcium-sensing receptor
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
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
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
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
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
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
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPC6
|
glypican 6
|
|
GPX4
|
glutathione peroxidase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIF22
|
kinesin family member 22
|
|
LBR
|
lamin B receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LPIN2
|
lipin 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MATN3
|
matrilin 3
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP9
|
matrix metallopeptidase 9
|
|
NEK1
|
NIMA-related kinase 1
|
|
NOTCH3
|
notch 3
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PCNT
|
pericentrin
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLEKHM1
|
pleckstrin homology domain containing, family M (with RUN domain) member 1
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SETBP1
|
SET binding protein 1
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHOX
|
short stature homeobox
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SMAD4
|
SMAD family member 4
|
|
SNX10
|
sorting nexin 10
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TMEM165
|
transmembrane protein 165
|
|
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
|
|
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
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
XYLT1
|
xylosyltransferase I
|
