| Symbol |
Name |
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
AR
|
androgen receptor
|
|
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
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CD40LG
|
CD40 ligand
|
|
CFP
|
complement factor properdin
|
|
CHRDL1
|
chordin-like 1
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLIC2
|
chloride intracellular channel 2
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
CUL4B
|
cullin 4B
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
EDA
|
ectodysplasin A
|
|
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
|
|
FOXP3
|
forkhead box P3
|
|
FRMD7
|
FERM domain containing 7
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GPC3
|
glypican 3
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
HCFC1
|
host cell factor C1
|
|
HDAC8
|
histone deacetylase 8
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
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
|
|
KIAA2022
|
KIAA2022
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MID1
|
midline 1
|
|
MTM1
|
myotubularin 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-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
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
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
|
|
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
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMS
|
spermine synthase
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SYN1
|
synapsin I
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TAZ
|
tafazzin
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
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
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF81
|
zinc finger protein 81
|
