| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACSL3
|
acyl-CoA synthetase long-chain family member 3
|
|
ADAMTS3
|
ADAM metallopeptidase with thrombospondin type 1 motif, 3
|
|
AGO2
|
argonaute RISC catalytic component 2
|
|
AKIRIN2
|
akirin 2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKTIP
|
AKT interacting protein
|
|
ALX4
|
ALX homeobox 4
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
APC
|
adenomatous polyposis coli
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARL6IP6
|
ADP-ribosylation factor-like 6 interacting protein 6
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V1B2
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
B3GLCT
|
beta 3-glucosyltransferase
|
|
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
|
|
BCR
|
breakpoint cluster region
|
|
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
|
|
BMS1
|
BMS1 ribosome biogenesis factor
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTRC
|
beta-transducin repeat containing E3 ubiquitin protein ligase
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CD6
|
CD6 molecule
|
|
CD96
|
CD96 molecule
|
|
CDAN1
|
codanin 1
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CKAP2L
|
cytoskeleton associated protein 2-like
|
|
CKAP4
|
cytoskeleton-associated protein 4
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CRIPT
|
cysteine-rich PDZ-binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRMP1
|
collapsin response mediator protein 1
|
|
CTNND1
|
catenin (cadherin-associated protein), delta 1
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CUL4B
|
cullin 4B
|
|
DACT1
|
dishevelled-binding antagonist of beta-catenin 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DLL4
|
delta-like 4 (Drosophila)
|
|
DLX5
|
distal-less homeobox 5
|
|
DLX6
|
distal-less homeobox 6
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DSP
|
desmoplakin
|
|
DVL1
|
dishevelled segment polarity protein 1
|
|
DVL3
|
dishevelled segment polarity protein 3
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
DYNC2LI1
|
dynein, cytoplasmic 2, light intermediate chain 1
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EED
|
embryonic ectoderm development
|
|
EFNB1
|
ephrin-B1
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EP300
|
E1A binding protein p300
|
|
EPS15L1
|
epidermal growth factor receptor pathway substrate 15-like 1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERF
|
Ets2 repressor factor
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVX2
|
even-skipped homeobox 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM149B1
|
family with sequence similarity 149, member B1
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FAM92A1
|
family with sequence similarity 92, member A1
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN1
|
fibulin 1
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FERMT1
|
fermitin family member 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLI1
|
Fli-1 proto-oncogene, ETS transcription factor
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FZD2
|
frizzled class receptor 2
|
|
FZD4
|
frizzled class receptor 4
|
|
GDF5
|
growth differentiation factor 5
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPHL1
|
hephaestin-like 1
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HOXA11
|
homeobox A11
|
|
HOXA13
|
homeobox A13
|
|
HOXD10
|
homeobox D10
|
|
HOXD12
|
homeobox D12
|
|
HOXD13
|
homeobox D13
|
|
HOXD8
|
homeobox D8
|
|
HOXD9
|
homeobox D9
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
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
|
|
IFT52
|
intraflagellar transport 52
|
|
IFT80
|
intraflagellar transport 80
|
|
IFT81
|
intraflagellar transport 81
|
|
IGF2
|
insulin-like growth factor 2
|
|
IHH
|
indian hedgehog
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
IRF6
|
interferon regulatory factor 6
|
|
JAG2
|
jagged 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIAA0753
|
KIAA0753
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF7
|
kinesin family member 7
|
|
KIFBP
|
kinesin family binding protein
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBR1
|
limb development membrane protein 1
|
|
LMNA
|
lamin A/C
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAD2L2
|
MAD2 mitotic arrest deficient-like 2 (yeast)
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MECOM
|
MDS1 and EVI1 complex locus
|
|
MED12
|
mediator complex subunit 12
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MID1
|
midline 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMUT
|
methylmalonyl-CoA mutase
|
|
MSX1
|
msh homeobox 1
|
|
MSX2
|
msh homeobox 2
|
|
MUL1
|
mitochondrial E3 ubiquitin protein ligase 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NECTIN1
|
nectin cell adhesion molecule 1
|
|
NECTIN4
|
nectin cell adhesion molecule 4
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK9
|
NIMA-related kinase 9
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NXN
|
nucleoredoxin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTUD6B
|
OTU domain containing 6B
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PHF21A
|
PHD finger protein 21A
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLXND1
|
plexin D1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKD1
|
protein kinase D1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51
|
RAD51 recombinase
|
|
RAD51C
|
RAD51 paralog C
|
|
RAI1
|
retinoic acid induced 1
|
|
RASSF8
|
Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
|
|
RB1
|
retinoblastoma 1
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
REV3L
|
REV3-like, polymerase (DNA directed), zeta, catalytic subunit
|
|
RFWD3
|
ring finger and WD repeat domain 3
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RIPPLY2
|
ripply transcriptional repressor 2
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPL10
|
ribosomal protein L10
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA5A
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
|
|
SETD5
|
SET domain containing 5
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHFM1
|
split hand/foot malformation (ectrodactyly) type 1
|
|
SHH
|
sonic hedgehog
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC25A24
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMO
|
smoothened, frizzled class receptor
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOST
|
sclerostin
|
|
SPECC1L
|
sperm antigen with calponin homology and coiled-coil domains 1-like
|
|
SUZ12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
TBR1
|
T-box, brain, 1
|
|
TBX15
|
T-box 15
|
|
TBX22
|
T-box 22
|
|
TBX5
|
T-box 5
|
|
TCF12
|
transcription factor 12
|
|
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)
|
|
TICRR
|
TOPBP1-interacting checkpoint and replication regulator
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM256
|
transmembrane protein 256
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC30B
|
tetratricopeptide repeat domain 30B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TXNDC15
|
thioredoxin domain containing 15
|
|
UBE2T
|
ubiquitin-conjugating enzyme E2T
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UVRAG
|
UV radiation resistance associated
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VSX1
|
visual system homeobox 1
|
|
WASHC5
|
WASH complex subunit 5
|
|
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
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
XRCC2
|
X-ray repair complementing defective repair in Chinese hamster cells 2
|
|
YY1AP1
|
YY1 associated protein 1
|
|
ZDHHC24
|
zinc finger, DHHC-type containing 24
|
|
ZNF385B
|
zinc finger protein 385B
|
|
ZNF645
|
zinc finger protein 645
|
|
ZNF804A
|
zinc finger protein 804A
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
