| Symbol |
Name |
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
AMELX
|
amelogenin, X-linked
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANOS1
|
anosmin 1
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AR
|
androgen receptor
|
|
ARAF
|
A-Raf proto-oncogene, serine/threonine kinase
|
|
ARHGEF6
|
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ARX
|
aristaless related homeobox
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCOR
|
BCL6 corepressor
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CD40LG
|
CD40 ligand
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDR1
|
cerebellar degeneration-related protein 1, 34kDa
|
|
CFP
|
complement factor properdin
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRDL1
|
chordin-like 1
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLIC2
|
chloride intracellular channel 2
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CSF2RA
|
colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
|
|
CUL4B
|
cullin 4B
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
DCX
|
doublecortin
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DMD
|
dystrophin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EDA
|
ectodysplasin A
|
|
EFNB1
|
ephrin-B1
|
|
ELK1
|
ELK1, member of ETS oncogene family
|
|
EMD
|
emerin
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF16
|
fibroblast growth factor 16
|
|
FHL1
|
four and a half LIM domains 1
|
|
FLNA
|
filamin A, alpha
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXO4
|
forkhead box O4
|
|
FOXP3
|
forkhead box P3
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRMD7
|
FERM domain containing 7
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GABRA3
|
gamma-aminobutyric acid (GABA) A receptor, alpha 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDI1
|
GDP dissociation inhibitor 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GPC3
|
glypican 3
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRPR
|
gastrin-releasing peptide receptor
|
|
HCCS
|
holocytochrome c synthase
|
|
HCFC1
|
host cell factor C1
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HMGB3
|
high mobility group box 3
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IDS
|
iduronate 2-sulfatase
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IGSF1
|
immunoglobulin superfamily, member 1
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA2022
|
KIAA2022
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LMNA
|
lamin A/C
|
|
MAGT1
|
magnesium transporter 1
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAOA
|
monoamine oxidase A
|
|
MAOB
|
monoamine oxidase B
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCF2
|
MCF.2 cell line derived transforming sequence
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MID1
|
midline 1
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MTM1
|
myotubularin 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NUBPL
|
nucleotide binding protein-like
|
|
NYX
|
nyctalopin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PCDH19
|
protocadherin 19
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PFKFB1
|
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PLP1
|
proteolipid protein 1
|
|
PLS3
|
plastin 3
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RBM10
|
RNA binding motif protein 10
|
|
RENBP
|
renin binding protein
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPS4X
|
ribosomal protein S4, X-linked
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RS1
|
retinoschisin 1
|
|
S100G
|
S100 calcium binding protein G
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SHOX
|
short stature homeobox
|
|
SLC10A3
|
solute carrier family 10, member 3
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMPX
|
small muscle protein, X-linked
|
|
SMS
|
spermine synthase
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SYN1
|
synapsin I
|
|
SYP
|
synaptophysin
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TAZ
|
tafazzin
|
|
TBX22
|
T-box 22
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TSPAN7
|
tetraspanin 7
|
|
TYR
|
tyrosinase
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR45
|
WD repeat domain 45
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZFX
|
zinc finger protein, X-linked
|
|
ZIC3
|
Zic family member 3
|
|
ZNF711
|
zinc finger protein 711
|
|
ZNF81
|
zinc finger protein 81
|
