| Symbol |
Name |
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDON
|
cell adhesion associated, oncogene regulated
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
COMT
|
catechol-O-methyltransferase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FNBP4
|
formin binding protein 4
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
HIRA
|
histone cell cycle regulator
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
KIF7
|
kinesin family member 7
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LARGE
|
like-glycosyltransferase
|
|
MKS1
|
Meckel syndrome, type 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRRX1
|
paired related homeobox 1
|
|
PTCH1
|
patched 1
|
|
RB1
|
retinoblastoma 1
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
TBX1
|
T-box 1
|
|
TCTN2
|
tectonic family member 2
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TREX1
|
three prime repair exonuclease 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
ZIC2
|
Zic family member 2
|
