| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACTL6B
|
actin-like 6B
|
|
ADAMTSL1
|
ADAMTS-like 1
|
|
AEBP1
|
AE binding protein 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AHSG
|
alpha-2-HS-glycoprotein
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALKBH8
|
alkB, alkylation repair homolog 8 (E. coli)
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP3D1
|
adaptor-related protein complex 3, delta 1 subunit
|
|
APC2
|
adenomatosis polyposis coli 2
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CIT
|
citron rho-interacting serine/threonine kinase
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CTU2
|
cytosolic thiouridylase subunit 2 homolog (S. pombe)
|
|
CWC27
|
CWC27 spliceosome-associated protein homolog (S. cerevisiae)
|
|
DDX3X
|
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
|
|
DENND5A
|
DENN/MADD domain containing 5A
|
|
DPF2
|
D4, zinc and double PHD fingers family 2
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
DZIP1L
|
DAZ interacting zinc finger protein 1-like
|
|
EED
|
embryonic ectoderm development
|
|
EIF2S3
|
eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
|
|
ELN
|
elastin
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAR1
|
fatty acyl CoA reductase 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIBP
|
fibroblast growth factor (acidic) intracellular binding protein
|
|
FLNA
|
filamin A, alpha
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GLI2
|
GLI family zinc finger 2
|
|
GPR101
|
G protein-coupled receptor 101
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIA4
|
glutamate receptor, ionotropic, AMPA 4
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HECW2
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
|
|
HERC1
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
|
|
HHAT
|
hedgehog acyltransferase
|
|
HNRNPK
|
heterogeneous nuclear ribonucleoprotein K
|
|
INSR
|
insulin receptor
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGB6
|
integrin, beta 6
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KDM6B
|
lysine (K)-specific demethylase 6B
|
|
KIAA2022
|
KIAA2022
|
|
KIF1A
|
kinesin family member 1A
|
|
KIFBP
|
kinesin family binding protein
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KMT2E
|
lysine (K)-specific methyltransferase 2E
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAGE3
|
L antigen family, member 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBTPS1
|
membrane-bound transcription factor peptidase, site 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED13L
|
mediator complex subunit 13-like
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGP
|
matrix Gla protein
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBN
|
nibrin
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NECTIN1
|
nectin cell adhesion molecule 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUP107
|
nucleoporin 107kDa
|
|
NUP133
|
nucleoporin 133kDa
|
|
OPHN1
|
oligophrenin 1
|
|
OSGEP
|
O-sialoglycoprotein endopeptidase
|
|
OTUD6B
|
OTU domain containing 6B
|
|
PACS1
|
phosphofurin acidic cluster sorting protein 1
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX1
|
paired box 1
|
|
PCLO
|
piccolo presynaptic cytomatrix protein
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PMM2
|
phosphomannomutase 2
|
|
POLR1A
|
polymerase (RNA) I polypeptide A, 194kDa
|
|
PPP1CB
|
protein phosphatase 1, catalytic subunit, beta isozyme
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDX1
|
peroxiredoxin 1
|
|
PRUNE1
|
prune exopolyphosphatase 1
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAP1A
|
RAP1A, member of RAS oncogene family
|
|
RAP1B
|
RAP1B, member of RAS oncogene family
|
|
RBMX
|
RNA binding motif protein, X-linked
|
|
RERE
|
arginine-glutamic acid dipeptide (RE) repeats
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RHOBTB2
|
Rho-related BTB domain containing 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SET
|
SET nuclear proto-oncogene
|
|
SETD2
|
SET domain containing 2
|
|
SETD5
|
SET domain containing 5
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC6A17
|
solute carrier family 6 (neutral amino acid transporter), member 17
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SSR4
|
signal sequence receptor, delta
|
|
STEEP1
|
STING1 ER exit protein 1
|
|
SUZ12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TAZ
|
tafazzin
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D23
|
TBC1 domain family, member 23
|
|
TBCD
|
tubulin folding cofactor D
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX22
|
T-box 22
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
THOC2
|
THO complex 2
|
|
TOE1
|
target of EGR1, member 1 (nuclear)
|
|
TP53RK
|
TP53 regulating kinase
|
|
TPRKB
|
TP53RK binding protein
|
|
TRIO
|
trio Rho guanine nucleotide exchange factor
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTI2
|
TELO2 interacting protein 2
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
WDR4
|
WD repeat domain 4
|
|
WDR73
|
WD repeat domain 73
|
|
YME1L1
|
YME1-like 1 ATPase
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF711
|
zinc finger protein 711
|
|
ZNHIT3
|
zinc finger, HIT-type containing 3
|
