| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ATP5F1D
|
ATP synthase F1 subunit delta
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CDC45
|
cell division cycle 45
|
|
CDC6
|
cell division cycle 6
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CKAP2L
|
cytoskeleton associated protein 2-like
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCC
|
DCC netrin 1 receptor
|
|
DGCR2
|
DiGeorge syndrome critical region gene 2
|
|
DGCR6
|
DiGeorge syndrome critical region gene 6
|
|
DGCR8
|
DGCR8 microprocessor complex subunit
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DMD
|
dystrophin
|
|
DNAJC21
|
DnaJ (Hsp40) homolog, subfamily C, member 21
|
|
DNAL4
|
dynein, axonemal, light chain 4
|
|
DVL1
|
dishevelled segment polarity protein 1
|
|
DVL3
|
dishevelled segment polarity protein 3
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EFL1
|
elongation factor like GTPase 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ESS2
|
ess-2 splicing factor homolog
|
|
FARSB
|
phenylalanyl-tRNA synthetase, beta subunit
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FOXP2
|
forkhead box P2
|
|
FZD2
|
frizzled class receptor 2
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GHR
|
growth hormone receptor
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GMNN
|
geminin, DNA replication inhibitor
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
HAL
|
histidine ammonia-lyase
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
IFNG
|
interferon, gamma
|
|
INPP5K
|
inositol polyphosphate-5-phosphatase K
|
|
IRF6
|
interferon regulatory factor 6
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
JAG1
|
jagged 1
|
|
JMJD1C
|
jumonji domain containing 1C
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KIAA0195
|
KIAA0195
|
|
KIF11
|
kinesin family member 11
|
|
KIFBP
|
kinesin family binding protein
|
|
LARGE
|
like-glycosyltransferase
|
|
LAS1L
|
LAS1-like (S. cerevisiae)
|
|
LEMD3
|
LEM domain containing 3
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MICU1
|
mitochondrial calcium uptake 1
|
|
MKRN3
|
makorin ring finger protein 3
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MSX1
|
msh homeobox 1
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDUFB11
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
|
|
NECTIN1
|
nectin cell adhesion molecule 1
|
|
NF1
|
neurofibromin 1
|
|
NPAP1
|
nuclear pore associated protein 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NTN1
|
netrin 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGH
|
phosphatidylinositol glycan anchor biosynthesis, class H
|
|
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
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAD51
|
RAD51 recombinase
|
|
RBMX
|
RNA binding motif protein, X-linked
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RREB1
|
ras responsive element binding protein 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SEC24C
|
SEC24 family member C
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX6
|
SIX homeobox 6
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPART
|
spartin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRP54
|
signal recognition particle 54kDa
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
SYN1
|
synapsin I
|
|
TBX1
|
T-box 1
|
|
TCF4
|
transcription factor 4
|
|
TCTN3
|
tectonic family member 3
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM5
|
transmembrane protein 5
|
|
TP63
|
tumor protein p63
|
|
TRIO
|
trio Rho guanine nucleotide exchange factor
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TWNK
|
twinkle mtDNA helicase
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
VEGFC
|
vascular endothelial growth factor C
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
YY1AP1
|
YY1 associated protein 1
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
