| Symbol |
Name |
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAM10
|
ADAM metallopeptidase domain 10
|
|
ADAT3
|
adenosine deaminase, tRNA-specific 3
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGEF6
|
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNG2
|
calcium channel, voltage-dependent, gamma subunit 2
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDH15
|
cadherin 15, type 1, M-cadherin (myotubule)
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CENPJ
|
centromere protein J
|
|
CEP135
|
centrosomal protein 135kDa
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP63
|
centrosomal protein 63kDa
|
|
CHKB
|
choline kinase beta
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
CRADD
|
CASP2 and RIPK1 domain containing adaptor with death domain
|
|
CRBN
|
cereblon
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTSD
|
cathepsin D
|
|
CUL4B
|
cullin 4B
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EML1
|
echinoderm microtubule associated protein like 1
|
|
EPB41L1
|
erythrocyte membrane protein band 4.1-like 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
FOXP1
|
forkhead box P1
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GATAD2B
|
GATA zinc finger domain containing 2B
|
|
GDI1
|
GDP dissociation inhibitor 1
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GRIN1
|
glutamate receptor, ionotropic, N-methyl D-aspartate 1
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GSK3A
|
glycogen synthase kinase 3 alpha
|
|
GSK3B
|
glycogen synthase kinase 3 beta
|
|
HCFC1
|
host cell factor C1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA1033
|
KIAA1033
|
|
KIAA2022
|
KIAA2022
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF7
|
kinesin family member 7
|
|
KIRREL3
|
kin of IRRE like 3 (Drosophila)
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LARP7
|
La ribonucleoprotein domain family, member 7
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAOA
|
monoamine oxidase A
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK10
|
mitogen-activated protein kinase 10
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MCPH1
|
microcephalin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED23
|
mediator complex subunit 23
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OPHN1
|
oligophrenin 1
|
|
PACS1
|
phosphofurin acidic cluster sorting protein 1
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX1
|
paired box 1
|
|
PAX6
|
paired box 6
|
|
PCDH19
|
protocadherin 19
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PHF6
|
PHD finger protein 6
|
|
PHF8
|
PHD finger protein 8
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PLD3
|
phospholipase D family, member 3
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PPP5C
|
protein phosphatase 5, catalytic subunit
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RALGPS2
|
Ral GEF with PH domain and SH3 binding motif 2
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM28
|
RNA binding motif protein 28
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SATB2
|
SATB homeobox 2
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SHROOM4
|
shroom family member 4
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
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
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMS
|
spermine synthase
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYP
|
synaptophysin
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TAT
|
tyrosine aminotransferase
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBCE
|
tubulin folding cofactor E
|
|
TCF4
|
transcription factor 4
|
|
TECR
|
trans-2,3-enoyl-CoA reductase
|
|
THOC6
|
THO complex 6
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM67
|
transmembrane protein 67
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSPAN7
|
tetraspanin 7
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
TXNDC12
|
thioredoxin domain containing 12 (endoplasmic reticulum)
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF711
|
zinc finger protein 711
|
|
ZNF81
|
zinc finger protein 81
|
