| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD2
|
ATP-binding cassette, sub-family D (ALD), member 2
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACP2
|
acid phosphatase 2, lysosomal
|
|
ADAMTS4
|
ADAM metallopeptidase with thrombospondin type 1 motif, 4
|
|
AFF1
|
AF4/FMR2 family, member 1
|
|
AGA
|
aspartylglucosaminidase
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARSA
|
arylsulfatase A
|
|
ARSG
|
arylsulfatase G
|
|
ASPA
|
aspartoacylase
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATRN
|
attractin
|
|
BAD
|
BCL2-associated agonist of cell death
|
|
BCL2L11
|
BCL2-like 11 (apoptosis facilitator)
|
|
BID
|
BH3 interacting domain death agonist
|
|
CANX
|
calnexin
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CD40LG
|
CD40 ligand
|
|
CERS1
|
ceramide synthase 1
|
|
CERS6
|
ceramide synthase 6
|
|
CLCN3
|
chloride channel, voltage-sensitive 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CNP
|
2',3'-cyclic nucleotide 3' phosphodiesterase
|
|
CNTF
|
ciliary neurotrophic factor
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COMMD3-BMI1
|
COMMD3-BMI1 readthrough
|
|
COQ9
|
coenzyme Q9
|
|
CTSF
|
cathepsin F
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
DCR
|
Down syndrome chromosome region
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DRD2
|
dopamine receptor D2
|
|
DST
|
dystonin
|
|
EEF1A2
|
eukaryotic translation elongation factor 1 alpha 2
|
|
EN1
|
engrailed homeobox 1
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FOXJ1
|
forkhead box J1
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GALC
|
galactosylceramidase
|
|
GBA
|
glucosidase, beta, acid
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GRN
|
granulin
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HFE
|
hemochromatosis
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HTT
|
huntingtin
|
|
IL6
|
interleukin 6
|
|
INPP4A
|
inositol polyphosphate-4-phosphatase, type I, 107kDa
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
LBR
|
lamin B receptor
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTN1
|
listerin E3 ubiquitin protein ligase 1
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGAT5B
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B
|
|
MGRN1
|
mahogunin ring finger 1, E3 ubiquitin protein ligase
|
|
MYO7A
|
myosin VIIA
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NOTCH3
|
notch 3
|
|
NPAS4
|
neuronal PAS domain protein 4
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
NXNL1
|
nucleoredoxin-like 1
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PI4K2A
|
phosphatidylinositol 4-kinase type 2 alpha
|
|
PLP1
|
proteolipid protein 1
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRKAB1
|
protein kinase, AMP-activated, beta 1 non-catalytic subunit
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
RHO
|
rhodopsin
|
|
SCYL1
|
SCY1-like 1 (S. cerevisiae)
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SP4
|
Sp4 transcription factor
|
|
SPARCL1
|
SPARC-like 1 (hevin)
|
|
SPEF2
|
sperm flagellar 2
|
|
STAM
|
signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
|
|
STMN1
|
stathmin 1
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TRIB2
|
tribbles pseudokinase 2
|
|
TSPAN2
|
tetraspanin 2
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS54
|
vacuolar protein sorting 54 homolog (S. cerevisiae)
|
