| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALX3
|
ALX homeobox 3
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
BCOR
|
BCL6 corepressor
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCND2
|
cyclin D2
|
|
CD96
|
CD96 molecule
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CNTN4
|
contactin 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFNB1
|
ephrin-B1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FBLN1
|
fibulin 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FNBP4
|
formin binding protein 4
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GDF5
|
growth differentiation factor 5
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LMBR1
|
limb development membrane protein 1
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NEK1
|
NIMA-related kinase 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PHF8
|
PHD finger protein 8
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PITX1
|
paired-like homeodomain 1
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM16
|
PR domain containing 16
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
RBM10
|
RNA binding motif protein 10
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHH
|
sonic hedgehog
|
|
SKI
|
SKI proto-oncogene
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBX1
|
T-box 1
|
|
TBX3
|
T-box 3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
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
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZIC3
|
Zic family member 3
|
|
ZNF423
|
zinc finger protein 423
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
