| Symbol |
Name |
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
AHI1
|
Abelson helper integration site 1
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B9D1
|
B9 protein domain 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
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
COMT
|
catechol-O-methyltransferase
|
|
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
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
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
|
|
FOXF1
|
forkhead box F1
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
HIRA
|
histone cell cycle regulator
|
|
IFT27
|
intraflagellar transport 27
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRTN
|
neurturin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
RAD51C
|
RAD51 paralog C
|
|
RET
|
ret proto-oncogene
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNAI2
|
snail family zinc finger 2
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
TBX1
|
T-box 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
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
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZNF423
|
zinc finger protein 423
|
