| Symbol |
Name |
|
ACAT2
|
acetyl-CoA acetyltransferase 2
|
|
ADCY5
|
adenylate cyclase 5
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APTX
|
aprataxin
|
|
ARSA
|
arylsulfatase A
|
|
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
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN7
|
ataxin 7
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FOXG1
|
forkhead box G1
|
|
FTL
|
ferritin, light polypeptide
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
HCFC1
|
host cell factor C1
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTT
|
huntingtin
|
|
JPH3
|
junctophilin 3
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NUP62
|
nucleoporin 62kDa
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
PANK2
|
pantothenate kinase 2
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PTCH1
|
patched 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SETX
|
senataxin
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
SUOX
|
sulfite oxidase
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TBP
|
TATA box binding protein
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
