| Symbol |
Name |
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
FOXF1
|
forkhead box F1
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA6
|
GATA binding protein 6
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HNF1B
|
HNF1 homeobox B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
LHX1
|
LIM homeobox 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
NEK1
|
NIMA-related kinase 1
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PRDM16
|
PR domain containing 16
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SKI
|
SKI proto-oncogene
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR60
|
WD repeat domain 60
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
