| Symbol |
Name |
|
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
|
|
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
|
|
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
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOK7
|
docking protein 7
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FTO
|
fat mass and obesity associated
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LARGE
|
like-glycosyltransferase
|
|
MKS1
|
Meckel syndrome, type 1
|
|
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
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
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
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
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
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
