| 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
|
|
ADA
|
adenosine deaminase
|
|
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
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASR
|
calcium-sensing receptor
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
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
|
|
CUL7
|
cullin 7
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DNAJC21
|
DnaJ (Hsp40) homolog, subfamily C, member 21
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYNC2LI1
|
dynein, cytoplasmic 2, light intermediate chain 1
|
|
EED
|
embryonic ectoderm development
|
|
EFL1
|
elongation factor like GTPase 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EXOC6B
|
exocyst complex component 6B
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FBN1
|
fibrillin 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GPC6
|
glypican 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
|
|
IFT52
|
intraflagellar transport 52
|
|
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
|
|
LEMD3
|
LEM domain containing 3
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBR1
|
limb development membrane protein 1
|
|
MAP3K7
|
mitogen-activated protein kinase kinase kinase 7
|
|
MMP13
|
matrix metallopeptidase 13
|
|
NOTCH3
|
notch 3
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
P4HB
|
prolyl 4-hydroxylase, beta polypeptide
|
|
PCNT
|
pericentrin
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
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
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SEC24D
|
SEC24 family member D
|
|
SHOX
|
short stature homeobox
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SMAD4
|
SMAD family member 4
|
|
SNX10
|
sorting nexin 10
|
|
SRP54
|
signal recognition particle 54kDa
|
|
SUZ12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TONSL
|
tonsoku-like, DNA repair protein
|
|
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
|
|
XYLT1
|
xylosyltransferase I
|
