| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AMN
|
amnion associated transmembrane protein
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
ARSA
|
arylsulfatase A
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATN1
|
atrophin 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
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)
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COASY
|
CoA synthase
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CST3
|
cystatin C
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSF
|
cathepsin F
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DISC2
|
disrupted in schizophrenia 2 (non-protein coding)
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GALC
|
galactosylceramidase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GLB1
|
galactosidase, beta 1
|
|
GM2A
|
GM2 ganglioside activator
|
|
GNAS
|
GNAS complex locus
|
|
GRN
|
granulin
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITM2B
|
integral membrane protein 2B
|
|
JPH3
|
junctophilin 3
|
|
LMNB1
|
lamin B1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MATR3
|
matrin 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MFN2
|
mitofusin 2
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
PANK2
|
pantothenate kinase 2
|
|
PDE11A
|
phosphodiesterase 11A
|
|
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
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RBM28
|
RNA binding motif protein 28
|
|
RNF216
|
ring finger protein 216
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYNJ1
|
synaptojanin 1
|
|
TBP
|
TATA box binding protein
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTR
|
transthyretin
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBQLN2
|
ubiquilin 2
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
