| Symbol |
Name |
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AMT
|
aminomethyltransferase
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATXN2
|
ataxin 2
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CSTB
|
cystatin B (stefin B)
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DRD2
|
dopamine receptor D2
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GBA
|
glucosidase, beta, acid
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLYCTK
|
glycerate kinase
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOL3
|
nucleolar protein 3 (apoptosis repressor with CARD domain)
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAMBP
|
STAM binding protein
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBP
|
TATA box binding protein
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
