| Symbol |
Name |
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
ALX4
|
ALX homeobox 4
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATR
|
ATR serine/threonine kinase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOK7
|
docking protein 7
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ELN
|
elastin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERF
|
Ets2 repressor factor
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FBN1
|
fibrillin 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FOXC1
|
forkhead box C1
|
|
FTO
|
fat mass and obesity associated
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IFT172
|
intraflagellar transport 172
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIAA0196
|
KIAA0196
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA1
|
laminin, alpha 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LEMD3
|
LEM domain containing 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MVK
|
mevalonate kinase
|
|
NEK1
|
NIMA-related kinase 1
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
PAX2
|
paired box 2
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLG
|
plasminogen
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM10
|
RNA binding motif protein 10
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SKI
|
SKI proto-oncogene
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR81
|
WD repeat domain 81
|
|
ZNF423
|
zinc finger protein 423
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
