| Symbol |
Name |
|
AHI1
|
Abelson helper integration site 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARSB
|
arylsulfatase B
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B3GNT1
|
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCND2
|
cyclin D2
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIC2
|
chloride intracellular channel 2
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTSK
|
cathepsin K
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOK7
|
docking protein 7
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERF
|
Ets2 repressor factor
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
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
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FNBP4
|
formin binding protein 4
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FTO
|
fat mass and obesity associated
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GALC
|
galactosylceramidase
|
|
GBA
|
glucosidase, beta, acid
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GPC3
|
glypican 3
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC6
|
histone deacetylase 6
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT172
|
intraflagellar transport 172
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMB1
|
laminin, beta 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MED12
|
mediator complex subunit 12
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MPDZ
|
multiple PDZ domain protein
|
|
MTM1
|
myotubularin 1
|
|
NF1
|
neurofibromin 1
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
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
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAD51C
|
RAD51 paralog C
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNX10
|
sorting nexin 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBX15
|
T-box 15
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
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
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TP53
|
tumor protein p53
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VSX1
|
visual system homeobox 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
|
ZIC2
|
Zic family member 2
|
|
ZIC3
|
Zic family member 3
|
|
ZNF423
|
zinc finger protein 423
|
