| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALX3
|
ALX homeobox 3
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCR
|
breakpoint cluster region
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHN1
|
chimerin 1
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
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
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTSK
|
cathepsin K
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EFNB1
|
ephrin-B1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FBN1
|
fibrillin 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FOXG1
|
forkhead box G1
|
|
FTO
|
fat mass and obesity associated
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GDF1
|
growth differentiation factor 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GPX4
|
glutathione peroxidase 4
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IHH
|
indian hedgehog
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INSR
|
insulin receptor
|
|
JAG1
|
jagged 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTNG1
|
netrin G1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PAX3
|
paired box 3
|
|
PCNT
|
pericentrin
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX1
|
paired-like homeodomain 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RB1
|
retinoblastoma 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SHOX
|
short stature homeobox
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STX16
|
syntaxin 16
|
|
SULF1
|
sulfatase 1
|
|
TBX22
|
T-box 22
|
|
TCF12
|
transcription factor 12
|
|
TCTN3
|
tectonic family member 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
