| Symbol |
Name |
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APTX
|
aprataxin
|
|
ARX
|
aristaless related homeobox
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
C19ORF70
|
chromosome 19 open reading frame 70
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1B
|
calcium channel, voltage-dependent, N type, alpha 1B subunit
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
ELP2
|
elongator acetyltransferase complex subunit 2
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FRRS1L
|
ferric-chelate reductase 1-like
|
|
FSIP1
|
fibrous sheath interacting protein 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNAS
|
GNAS complex locus
|
|
GTPBP2
|
GTP binding protein 2
|
|
GUF1
|
GUF1 GTPase homolog (S. cerevisiae)
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IREB2
|
iron-responsive element binding protein 2
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNA6
|
potassium channel, voltage gated shaker related subfamily A, member 6
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KMT2B
|
lysine (K)-specific methyltransferase 2B
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MBIP
|
MAP3K12 binding inhibitory protein 1
|
|
MCF2L
|
MCF.2 cell line derived transforming sequence-like
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MIPEP
|
mitochondrial intermediate peptidase
|
|
MMUT
|
methylmalonyl-CoA mutase
|
|
MRPS34
|
mitochondrial ribosomal protein S34
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
NADK2
|
NAD kinase 2, mitochondrial
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA13
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NEUROD2
|
neuronal differentiation 2
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NUP62
|
nucleoporin 62kDa
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX8
|
paired box 8
|
|
PAX9
|
paired box 9
|
|
PDE10A
|
phosphodiesterase 10A
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGP
|
phosphatidylinositol glycan anchor biosynthesis, class P
|
|
PIGQ
|
phosphatidylinositol glycan anchor biosynthesis, class Q
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PURA
|
purine-rich element binding protein A
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SETX
|
senataxin
|
|
SIK1
|
salt-inducible kinase 1
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC25A42
|
solute carrier family 25, member 42
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A9
|
solute carrier family 30 (zinc transporter), member 9
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUOX
|
sulfite oxidase
|
|
SYT1
|
synaptotagmin I
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TRIM8
|
tripartite motif containing 8
|
|
TTF1
|
transcription termination factor, RNA polymerase I
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
WWTR1
|
WW domain containing transcription regulator 1
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPR1
|
xenotropic and polytropic retrovirus receptor 1
|
