| Symbol |
Name |
|
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
|
|
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
|
|
FTL
|
ferritin, light polypeptide
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NUP62
|
nucleoporin 62kDa
|
|
PANK2
|
pantothenate kinase 2
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
SUOX
|
sulfite oxidase
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
