| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
AGO2
|
argonaute RISC catalytic component 2
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALB
|
albumin
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALX3
|
ALX homeobox 3
|
|
ALX4
|
ALX homeobox 4
|
|
ANPEP
|
alanyl (membrane) aminopeptidase
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC8
|
armadillo repeat containing 8
|
|
ARMC9
|
armadillo repeat containing 9
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
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
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRD2
|
bromodomain containing 2
|
|
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
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CCND2
|
cyclin D2
|
|
CD96
|
CD96 molecule
|
|
CDCA7
|
cell division cycle associated 7
|
|
CENPF
|
centromere protein F, 350/400kDa
|
|
CEP104
|
centrosomal protein 104kDa
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP19
|
centrosomal protein 19kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP55
|
centrosomal protein 55kDa
|
|
CHN1
|
chimerin 1
|
|
CKAP2L
|
cytoskeleton associated protein 2-like
|
|
COL25A1
|
collagen, type XXV, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRB2
|
crumbs family member 2
|
|
CREBBP
|
CREB binding protein
|
|
CRMP1
|
collapsin response mediator protein 1
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTU2
|
cytosolic thiouridylase subunit 2 homolog (S. pombe)
|
|
DACT1
|
dishevelled-binding antagonist of beta-catenin 1
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DISP1
|
dispatched homolog 1 (Drosophila)
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYNC2LI1
|
dynein, cytoplasmic 2, light intermediate chain 1
|
|
DYNLL1
|
dynein, light chain, LC8-type 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
ELN
|
elastin
|
|
EP300
|
E1A binding protein p300
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FAM149B1
|
family with sequence similarity 149, member B1
|
|
FAM92A1
|
family with sequence similarity 92, member A1
|
|
FBLN1
|
fibulin 1
|
|
FBXW11
|
F-box and WD repeat domain containing 11
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FOXA2
|
forkhead box A2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA6
|
GATA binding protein 6
|
|
GDF5
|
growth differentiation factor 5
|
|
GGA2
|
golgi-associated, gamma adaptin ear containing, ARF binding protein 2
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI1
|
GLI family zinc finger 1
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GRM5
|
glutamate receptor, metabotropic 5
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HNRNPK
|
heterogeneous nuclear ribonucleoprotein K
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT52
|
intraflagellar transport 52
|
|
IFT54
|
intraflagellar transport 54
|
|
IFT57
|
intraflagellar transport 57
|
|
IFT74
|
intraflagellar transport 74
|
|
IFT80
|
intraflagellar transport 80
|
|
IFT81
|
intraflagellar transport 81
|
|
IFT88
|
intraflagellar transport 88
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL10
|
interleukin 10
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INTU
|
inturned planar cell polarity protein
|
|
IQCE
|
IQ motif containing E
|
|
JMJD1C
|
jumonji domain containing 1C
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KIAA0556
|
KIAA0556
|
|
KIAA0586
|
KIAA0586
|
|
KIAA0753
|
KIAA0753
|
|
KIAA0825
|
KIAA0825
|
|
KIF3A
|
kinesin family member 3A
|
|
KIF7
|
kinesin family member 7
|
|
KPNA4
|
karyopherin alpha 4 (importin alpha 3)
|
|
LAMC2
|
laminin, gamma 2
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LHX4
|
LIM homeobox 4
|
|
LMBR1
|
limb development membrane protein 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
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
|
|
MME
|
membrane metallo-endopeptidase
|
|
NCAPG2
|
non-SMC condensin II complex, subunit G2
|
|
NEK1
|
NIMA-related kinase 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NKX2-6
|
NK2 homeobox 6
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NSD2
|
nuclear receptor binding SET domain protein 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
OXA1L
|
oxidase (cytochrome c) assembly 1-like
|
|
PAX6
|
paired box 6
|
|
PCBD1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PHF8
|
PHD finger protein 8
|
|
PIBF1
|
progesterone immunomodulatory binding factor 1
|
|
PIGX
|
phosphatidylinositol glycan anchor biosynthesis, class X
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PITX1
|
paired-like homeodomain 1
|
|
PNPLA3
|
patatin-like phospholipase domain containing 3
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRDM16
|
PR domain containing 16
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PSD
|
pleckstrin and Sec7 domain containing
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB34
|
RAB34, member RAS oncogene family
|
|
RANGAP1
|
Ran GTPase activating protein 1
|
|
RBM10
|
RNA binding motif protein 10
|
|
RERE
|
arginine-glutamic acid dipeptide (RE) repeats
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RREB1
|
ras responsive element binding protein 1
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEC24C
|
SEC24 family member C
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SKI
|
SKI proto-oncogene
|
|
SMAD4
|
SMAD family member 4
|
|
SMO
|
smoothened, frizzled class receptor
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SPINT2
|
serine peptidase inhibitor, Kunitz type, 2
|
|
STAG2
|
stromal antigen 2
|
|
STKLD1
|
serine/threonine kinase-like domain containing 1
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBX1
|
T-box 1
|
|
TBX22
|
T-box 22
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TCTEX1D2
|
Tctex1 domain containing 2
|
|
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)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TMEM107
|
transmembrane protein 107
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TRAPPC3
|
trafficking protein particle complex 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSLIG3C
|
tRNA splicing ligase complex subunit 3C
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TULP1
|
tubby like protein 1
|
|
TULP3
|
tubby like protein 3
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TXNDC15
|
thioredoxin domain containing 15
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UCN2
|
urocortin 2
|
|
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VSX1
|
visual system homeobox 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WT1
|
Wilms tumor 1
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZDHHC24
|
zinc finger, DHHC-type containing 24
|
|
ZIC2
|
Zic family member 2
|
|
ZNF141
|
zinc finger protein 141
|
|
ZNF423
|
zinc finger protein 423
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
