| 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)
|
|
ARID2
|
AT rich interactive domain 2 (ARID, RFX-like)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
ATP6V1E1
|
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
|
|
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
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP55
|
centrosomal protein 55kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHN1
|
chimerin 1
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOK7
|
docking protein 7
|
|
DPF2
|
D4, zinc and double PHD fingers family 2
|
|
DPH1
|
diphthamide biosynthesis 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXOC3L2
|
exocyst complex component 3-like 2
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FOXC1
|
forkhead box C1
|
|
FTO
|
fat mass and obesity associated
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IFT80
|
intraflagellar transport 80
|
|
IL18
|
interleukin 18
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KIAA0586
|
KIAA0586
|
|
KIAA1109
|
KIAA1109
|
|
KIF7
|
kinesin family member 7
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMC1
|
laminin, gamma 1 (formerly LAMB2)
|
|
LAMC2
|
laminin, gamma 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LBP
|
lipopolysaccharide binding protein
|
|
MAB21L1
|
mab-21-like 1 (C. elegans)
|
|
MAGED2
|
melanoma antigen family D2
|
|
MARK4
|
MAP/microtubule affinity-regulating kinase 4
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMRN1
|
multimerin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYOD1
|
myogenic differentiation 1
|
|
NDUFA4
|
NDUFA4, mitochondrial complex associated
|
|
NID1
|
nidogen 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NUP88
|
nucleoporin 88kDa
|
|
NXPH1
|
neurexophilin 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PHF14
|
PHD finger protein 14
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PLG
|
plasminogen
|
|
PMM2
|
phosphomannomutase 2
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
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
|
|
PPP1CB
|
protein phosphatase 1, catalytic subunit, beta isozyme
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RNF113A
|
ring finger protein 113A
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
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
|
|
SMARCC2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMG9
|
SMG9 nonsense mediated mRNA decay factor
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX4
|
SRY (sex determining region Y)-box 4
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM107
|
transmembrane protein 107
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM47
|
transmembrane protein 47
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TRIP13
|
thyroid hormone receptor interactor 13
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
WASHC5
|
WASH complex subunit 5
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZIC1
|
Zic family member 1
|
|
ZIC2
|
Zic family member 2
|
|
ZIC4
|
Zic family member 4
|
|
ZIC5
|
Zic family member 5
|
|
ZNF124
|
zinc finger protein 124
|
|
ZNF423
|
zinc finger protein 423
|
