| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ANOS1
|
anosmin 1
|
|
AR
|
androgen receptor
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
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
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
CDC6
|
cell division cycle 6
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CUL4B
|
cullin 4B
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCX
|
doublecortin
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GATA4
|
GATA binding protein 4
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC8
|
histone deacetylase 8
|
|
HOXA13
|
homeobox A13
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT27
|
intraflagellar transport 27
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF7
|
kinesin family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEK1
|
NIMA-related kinase 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PHF6
|
PHD finger protein 6
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX3
|
T-box 3
|
|
TCF4
|
transcription factor 4
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
