| Symbol |
Name |
|
ADSL
|
adenylosuccinate lyase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCKDK
|
branched chain ketoacid dehydrogenase kinase
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CREBBP
|
CREB binding protein
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYM
|
dymeclin
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HNF1B
|
HNF1 homeobox B
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
LHX1
|
LIM homeobox 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
MAOA
|
monoamine oxidase A
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEIS2
|
Meis homeobox 2
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NTNG1
|
netrin G1
|
|
OPHN1
|
oligophrenin 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAH
|
phenylalanine hydroxylase
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PRDM16
|
PR domain containing 16
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SATB2
|
SATB homeobox 2
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMAD4
|
SMAD family member 4
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCF12
|
transcription factor 12
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
