| Symbol |
Name |
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
COASY
|
CoA synthase
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTSF
|
cathepsin F
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCTN1
|
dynactin 1
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DPYS
|
dihydropyrimidinase
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EIF4G1
|
eukaryotic translation initiation factor 4 gamma, 1
|
|
ELN
|
elastin
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FBXO7
|
F-box protein 7
|
|
FKTN
|
fukutin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GIGYF2
|
GRB10 interacting GYF protein 2
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GM2A
|
GM2 ganglioside activator
|
|
GRN
|
granulin
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HTT
|
huntingtin
|
|
JPH3
|
junctophilin 3
|
|
KIF5A
|
kinesin family member 5A
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAPT
|
microtubule-associated protein tau
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
NOTCH3
|
notch 3
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POT1
|
protection of telomeres 1
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PSEN1
|
presenilin 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
SYNJ1
|
synaptojanin 1
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TERT
|
telomerase reverse transcriptase
|
|
TH
|
tyrosine hydroxylase
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
