| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAN
|
aggrecan
|
|
ACVR1
|
activin A receptor, type I
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
BCR
|
breakpoint cluster region
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CNTN1
|
contactin 1
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTSK
|
cathepsin K
|
|
CUL7
|
cullin 7
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DSP
|
desmoplakin
|
|
DST
|
dystonin
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNA
|
filamin A, alpha
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDF5
|
growth differentiation factor 5
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GNAS
|
GNAS complex locus
|
|
GPC3
|
glypican 3
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HESX1
|
HESX homeobox 1
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT43
|
intraflagellar transport 43
|
|
IHH
|
indian hedgehog
|
|
INSR
|
insulin receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
JAG1
|
jagged 1
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LMNA
|
lamin A/C
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MGP
|
matrix Gla protein
|
|
MIR17HG
|
miR-17-92 cluster host gene
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCNT
|
pericentrin
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PHF6
|
PHD finger protein 6
|
|
PHF8
|
PHD finger protein 8
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
POC1A
|
POC1 centriolar protein A
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RAD51C
|
RAD51 paralog C
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
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
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
STAMBP
|
STAM binding protein
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBX3
|
T-box 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
