| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACY1
|
aminoacylase 1
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
AMT
|
aminomethyltransferase
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ARG1
|
arginase 1
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
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
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CORO1A
|
coronin, actin binding protein, 1A
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CUL4B
|
cullin 4B
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYM
|
dymeclin
|
|
ELN
|
elastin
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXP1
|
forkhead box P1
|
|
GATA4
|
GATA binding protein 4
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIRA
|
histone cell cycle regulator
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KIAA2022
|
KIAA2022
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MID2
|
midline 2
|
|
MLH1
|
mutL homolog 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
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
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPHN1
|
oligophrenin 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PANK2
|
pantothenate kinase 2
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PTCH1
|
patched 1
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SATB2
|
SATB homeobox 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTI2
|
TELO2 interacting protein 2
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WDR62
|
WD repeat domain 62
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
