| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
B9D1
|
B9 protein domain 1
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COLEC11
|
collectin sub-family member 11
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NELFA
|
negative elongation factor complex member A
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
ZNF423
|
zinc finger protein 423
|