| Symbol |
Name |
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ARX
|
aristaless related homeobox
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CTSD
|
cathepsin D
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
HCCS
|
holocytochrome c synthase
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
TCF4
|
transcription factor 4
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UROC1
|
urocanate hydratase 1
|
|
WDR81
|
WD repeat domain 81
|
|
ZNF592
|
zinc finger protein 592
|
