| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACOX2
|
acyl-CoA oxidase 2, branched chain
|
|
ACTB
|
actin, beta
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALX4
|
ALX homeobox 4
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANO10
|
anoctamin 10
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
AQP4
|
aquaporin 4
|
|
ARHGEF7
|
Rho guanine nucleotide exchange factor (GEF) 7
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BCOR
|
BCL6 corepressor
|
|
BIN1
|
bridging integrator 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BPTF
|
bromodomain PHD finger transcription factor
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF4
|
chromosome 12 open reading frame 4
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CAPN3
|
calpain 3, (p94)
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CD38
|
CD38 molecule
|
|
CDH11
|
cadherin 11, type 2, OB-cadherin (osteoblast)
|
|
CDK19
|
cyclin-dependent kinase 19
|
|
CDK6
|
cyclin-dependent kinase 6
|
|
CDKL3
|
cyclin-dependent kinase-like 3
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CLCN4
|
chloride channel, voltage-sensitive 4
|
|
CLIP1
|
CAP-GLY domain containing linker protein 1
|
|
CNKSR2
|
connector enhancer of kinase suppressor of Ras 2
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX8A
|
cytochrome c oxidase subunit VIIIA (ubiquitous)
|
|
CPLX1
|
complexin 1
|
|
CRADD
|
CASP2 and RIPK1 domain containing adaptor with death domain
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CTSA
|
cathepsin A
|
|
CUX1
|
cut-like homeobox 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCPS
|
decapping enzyme, scavenger
|
|
DCX
|
doublecortin
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DMD
|
dystrophin
|
|
DNAJC12
|
DnaJ (Hsp40) homolog, subfamily C, member 12
|
|
DNAJC21
|
DnaJ (Hsp40) homolog, subfamily C, member 21
|
|
DNAJC3
|
DnaJ (Hsp40) homolog, subfamily C, member 3
|
|
DNAL4
|
dynein, axonemal, light chain 4
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DTNA
|
dystrobrevin, alpha
|
|
EDC3
|
enhancer of mRNA decapping 3
|
|
EP300
|
E1A binding protein p300
|
|
EPT1
|
ethanolaminephosphotransferase 1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERMARD
|
ER membrane-associated RNA degradation
|
|
EXOSC2
|
exosome component 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EZR
|
ezrin
|
|
FAM19A2
|
family with sequence similarity 19 (chemokine (C-C motif)-like), member A2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBXO31
|
F-box protein 31
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIBP
|
fibroblast growth factor (acidic) intracellular binding protein
|
|
FKRP
|
fukutin related protein
|
|
FLCN
|
folliculin
|
|
FLNA
|
filamin A, alpha
|
|
FMN2
|
formin 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
FRRS1L
|
ferric-chelate reductase 1-like
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA4
|
GATA binding protein 4
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GH1
|
growth hormone 1
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPAA1
|
glycosylphosphatidylinositol anchor attachment 1
|
|
GPC3
|
glypican 3
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
HDAC6
|
histone deacetylase 6
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HNMT
|
histamine N-methyltransferase
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF2
|
insulin-like growth factor 2
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
IRAK1BP1
|
interleukin-1 receptor-associated kinase 1 binding protein 1
|
|
JMJD1C
|
jumonji domain containing 1C
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KDM5B
|
lysine (K)-specific demethylase 5B
|
|
KIF11
|
kinesin family member 11
|
|
KIF1C
|
kinesin family member 1C
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KPNA7
|
karyopherin alpha 7 (importin alpha 8)
|
|
LEMD3
|
LEM domain containing 3
|
|
LINS
|
lines homolog (Drosophila)
|
|
LMAN2L
|
lectin, mannose-binding 2-like
|
|
LMNB1
|
lamin B1
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LYPD4
|
LY6/PLAUR domain containing 4
|
|
LZTR1
|
leucine-zipper-like transcription regulator 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MARS1
|
methionyl-tRNA synthetase 1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBOAT7
|
membrane bound O-acyltransferase domain containing 7
|
|
MCM3AP
|
minichromosome maintenance complex component 3 associated protein
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED23
|
mediator complex subunit 23
|
|
MED25
|
mediator complex subunit 25
|
|
METTL23
|
methyltransferase like 23
|
|
MGP
|
matrix Gla protein
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MRC1
|
mannose receptor, C type 1
|
|
MSMO1
|
methylsterol monooxygenase 1
|
|
MSTO1
|
misato 1, mitochondrial distribution and morphology regulator
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MTHFD1
|
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
|
|
NAA15
|
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NCKAP1
|
NCK-associated protein 1
|
|
NDST1
|
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
|
|
NF1
|
neurofibromin 1
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NONO
|
non-POU domain containing, octamer-binding
|
|
NR4A2
|
nuclear receptor subfamily 4, group A, member 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTN1
|
netrin 1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NUP62
|
nucleoporin 62kDa
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTUD6B
|
OTU domain containing 6B
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PCDH19
|
protocadherin 19
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PHF8
|
PHD finger protein 8
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIGC
|
phosphatidylinositol glycan anchor biosynthesis, class C
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POGZ
|
pogo transposable element with ZNF domain
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSMD12
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
QRICH1
|
glutamine-rich 1
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD51
|
RAD51 recombinase
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RARS1
|
arginyl-tRNA synthetase 1
|
|
RNF135
|
ring finger protein 135
|
|
RORB
|
RAR-related orphan receptor B
|
|
RPS23
|
ribosomal protein S23
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RREB1
|
ras responsive element binding protein 1
|
|
RSRC1
|
arginine/serine-rich coiled-coil 1
|
|
RTN4RL1
|
reticulon 4 receptor-like 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SARDH
|
sarcosine dehydrogenase
|
|
SARS1
|
seryl-tRNA synthetase 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCAPER
|
S-phase cyclin A-associated protein in the ER
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCYL1
|
SCY1-like 1 (S. cerevisiae)
|
|
SEC24C
|
SEC24 family member C
|
|
SETBP1
|
SET binding protein 1
|
|
SETD5
|
SET domain containing 5
|
|
SFXN4
|
sideroflexin 4
|
|
SHANK1
|
SH3 and multiple ankyrin repeat domains 1
|
|
SHANK2
|
SH3 and multiple ankyrin repeat domains 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC25A24
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC45A1
|
solute carrier family 45, member 1
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD3
|
SMAD family member 3
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOX
|
spermine oxidase
|
|
SMS
|
spermine synthase
|
|
SOX1
|
SRY (sex determining region Y)-box 1
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX5
|
SRY (sex determining region Y)-box 5
|
|
SPART
|
spartin
|
|
SPEG
|
SPEG complex locus
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRP54
|
signal recognition particle 54kDa
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
SRY
|
sex determining region Y
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STK32B
|
serine/threonine kinase 32B
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TADA1
|
transcriptional adaptor 1
|
|
TAF13
|
TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBX1
|
T-box 1
|
|
TCF20
|
transcription factor 20 (AR1)
|
|
TCF4
|
transcription factor 4
|
|
TECR
|
trans-2,3-enoyl-CoA reductase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TH
|
tyrosine hydroxylase
|
|
THOC2
|
THO complex 2
|
|
TNIK
|
TRAF2 and NCK interacting kinase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC8
|
trafficking protein particle complex 8
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIO
|
trio Rho guanine nucleotide exchange factor
|
|
TSPAN7
|
tetraspanin 7
|
|
TSPYL2
|
TSPY-like 2
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
USP34
|
ubiquitin specific peptidase 34
|
|
USP7
|
ubiquitin specific peptidase 7 (herpes virus-associated)
|
|
WARS2
|
tryptophanyl tRNA synthetase 2, mitochondrial
|
|
WASHC4
|
WASH complex subunit 4
|
|
WDFY3
|
WD repeat and FYVE domain containing 3
|
|
WDR48
|
WD repeat domain 48
|
|
WDR62
|
WD repeat domain 62
|
|
ZC3H14
|
zinc finger CCCH-type containing 14
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC24
|
zinc finger, DHHC-type containing 24
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFR
|
zinc finger RNA binding protein
|
|
ZMYND11
|
zinc finger, MYND-type containing 11
|
