| Symbol |
Name |
|
ADAT3
|
adenosine deaminase, tRNA-specific 3
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
AGRN
|
agrin
|
|
AHCY
|
adenosylhomocysteinase
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ASXL3
|
additional sex combs like transcriptional regulator 3
|
|
ATAD3A
|
ATPase family, AAA domain containing 3A
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL13A1
|
collagen, type XIII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DDX3X
|
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
EBF3
|
early B-cell factor 3
|
|
ELOVL6
|
ELOVL fatty acid elongase 6
|
|
EMC1
|
ER membrane protein complex subunit 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
FAM149B1
|
family with sequence similarity 149, member B1
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FOXG1
|
forkhead box G1
|
|
GATAD2B
|
GATA zinc finger domain containing 2B
|
|
GBA
|
glucosidase, beta, acid
|
|
GET1
|
guided entry of tail-anchored proteins factor 1
|
|
GLRB
|
glycine receptor, beta
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNA14
|
guanine nucleotide binding protein (G protein), alpha 14
|
|
GNB1
|
guanine nucleotide binding protein (G protein), beta polypeptide 1
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GTF2E2
|
general transcription factor IIE, polypeptide 2, beta 34kDa
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HMGB3
|
high mobility group box 3
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IARS2
|
isoleucyl-tRNA synthetase 2, mitochondrial
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KDM6B
|
lysine (K)-specific demethylase 6B
|
|
KIAA0753
|
KIAA0753
|
|
KIAA2022
|
KIAA2022
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KIF21A
|
kinesin family member 21A
|
|
KIF7
|
kinesin family member 7
|
|
LAGE3
|
L antigen family, member 3
|
|
LGI4
|
leucine-rich repeat LGI family, member 4
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MIPEP
|
mitochondrial intermediate peptidase
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MTHFS
|
5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
|
|
MYO9A
|
myosin IXA
|
|
NEUROD2
|
neuronal differentiation 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIGW
|
phosphatidylinositol glycan anchor biosynthesis, class W
|
|
PIGY
|
phosphatidylinositol glycan anchor biosynthesis, class Y
|
|
PMM2
|
phosphomannomutase 2
|
|
PRR12
|
proline rich 12
|
|
PURA
|
purine-rich element binding protein A
|
|
RNASEH1
|
ribonuclease H1
|
|
RNF113A
|
ring finger protein 113A
|
|
RORA
|
RAR-related orphan receptor A
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SLC18A3
|
solute carrier family 18 (vesicular acetylcholine transporter), member 3
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SON
|
SON DNA binding protein
|
|
SOST
|
sclerostin
|
|
ST20-MTHFS
|
ST20-MTHFS readthrough
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYT2
|
synaptotagmin II
|
|
TBC1D23
|
TBC1 domain family, member 23
|
|
TBCK
|
TBC1 domain containing kinase
|
|
TBX1
|
T-box 1
|
|
TCTN3
|
tectonic family member 3
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TMEM216
|
transmembrane protein 216
|
|
TRIT1
|
tRNA isopentenyltransferase 1
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
UBA5
|
ubiquitin-like modifier activating enzyme 5
|
|
UNC80
|
unc-80 homolog (C. elegans)
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
