| Symbol |
Name |
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
BCR
|
breakpoint cluster region
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHN1
|
chimerin 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DNM1L
|
dynamin 1-like
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FBN1
|
fibrillin 1
|
|
FBXO31
|
F-box protein 31
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FMR1
|
fragile X mental retardation 1
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GSC
|
goosecoid homeobox
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HHAT
|
hedgehog acyltransferase
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
JAG1
|
jagged 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF7
|
kinesin family member 7
|
|
LEMD3
|
LEM domain containing 3
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEIS2
|
Meis homeobox 2
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPHN1
|
oligophrenin 1
|
|
PHF6
|
PHD finger protein 6
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLEC
|
plectin
|
|
POC1A
|
POC1 centriolar protein A
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRDM16
|
PR domain containing 16
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAI1
|
retinoic acid induced 1
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
SEPT9
|
septin 9
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD4
|
SMAD family member 4
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STIM1
|
stromal interaction molecule 1
|
|
TAZ
|
tafazzin
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBCE
|
tubulin folding cofactor E
|
|
TCF4
|
transcription factor 4
|
|
THOC6
|
THO complex 6
|
|
TMEM237
|
transmembrane protein 237
|
|
TTI2
|
TELO2 interacting protein 2
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
