| Symbol |
Name |
|
ADA
|
adenosine deaminase
|
|
ADAMTS17
|
ADAM metallopeptidase with thrombospondin type 1 motif, 17
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AFF3
|
AF4/FMR2 family, member 3
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARSD
|
arylsulfatase D
|
|
ASH1L
|
ash1 (absent, small, or homeotic)-like (Drosophila)
|
|
ATR
|
ATR serine/threonine kinase
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GLCT
|
beta 3-glucosyltransferase
|
|
BGLAP
|
bone gamma-carboxyglutamate (gla) protein
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMP5
|
bone morphogenetic protein 5
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRD4
|
bromodomain containing 4
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CALR
|
calreticulin
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDC6
|
cell division cycle 6
|
|
CERS3
|
ceramide synthase 3
|
|
CHD3
|
chromodomain helicase DNA binding protein 3
|
|
CHD4
|
chromodomain helicase DNA binding protein 4
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYFIP2
|
cytoplasmic FMR1 interacting protein 2
|
|
CYP26B1
|
cytochrome P450, family 26, subfamily B, polypeptide 1
|
|
DDX58
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
|
|
DES
|
desmin
|
|
DLX6
|
distal-less homeobox 6
|
|
DONSON
|
downstream neighbor of SON
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EML1
|
echinoderm microtubule associated protein like 1
|
|
EMX2
|
empty spiracles homeobox 2
|
|
ETS2
|
v-ets avian erythroblastosis virus E26 oncogene homolog 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FBN1
|
fibrillin 1
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNB
|
filamin B, beta
|
|
FOXC1
|
forkhead box C1
|
|
FOXL2
|
forkhead box L2
|
|
FYB1
|
FYN binding protein 1
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF3
|
growth differentiation factor 3
|
|
GH1
|
growth hormone 1
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI2
|
GLI family zinc finger 2
|
|
GNAS
|
GNAS complex locus
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPC3
|
glypican 3
|
|
GUSB
|
glucuronidase, beta
|
|
HBB
|
hemoglobin, beta
|
|
HDAC4
|
histone deacetylase 4
|
|
HNRNPA2B1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT43
|
intraflagellar transport 43
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF2
|
insulin-like growth factor 2
|
|
IL6ST
|
interleukin 6 signal transducer
|
|
INTS1
|
integrator complex subunit 1
|
|
IRX5
|
iroquois homeobox 5
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNIP4
|
Kv channel interacting protein 4
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KNSTRN
|
kinetochore-localized astrin/SPAG5 binding protein
|
|
LECT1
|
leukocyte cell derived chemotaxin 1
|
|
LGI2
|
leucine-rich repeat LGI family, member 2
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LONP1
|
lon peptidase 1, mitochondrial
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
MAB21L2
|
mab-21-like 2 (C. elegans)
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MATN1
|
matrilin 1, cartilage matrix protein
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NELL1
|
NEL-like 1 (chicken)
|
|
NFATC2
|
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
|
|
NKX3-2
|
NK3 homeobox 2
|
|
NOG
|
noggin
|
|
NOTCH3
|
notch 3
|
|
NPPC
|
natriuretic peptide C
|
|
NR1D1
|
nuclear receptor subfamily 1, group D, member 1
|
|
PCGF2
|
polycomb group ring finger 2
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PSIP1
|
PC4 and SFRS1 interacting protein 1
|
|
PTCH1
|
patched 1
|
|
PTH
|
parathyroid hormone
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
REN
|
renin
|
|
RINT1
|
RAD50 interactor 1
|
|
RNF216
|
ring finger protein 216
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SHOX
|
short stature homeobox
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SLCO1B3
|
solute carrier organic anion transporter family, member 1B3
|
|
SMAD3
|
SMAD family member 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAG17
|
sperm associated antigen 17
|
|
SPECC1L
|
sperm antigen with calponin homology and coiled-coil domains 1-like
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
SUZ12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
THPO
|
thrombopoietin
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNC
|
tenascin C
|
|
TNFSF13
|
tumor necrosis factor (ligand) superfamily, member 13
|
|
TP53
|
tumor protein p53
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TYW1
|
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WDR37
|
WD repeat domain 37
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZMIZ1
|
zinc finger, MIZ-type containing 1
|
|
ZNF292
|
zinc finger protein 292
|
