| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCD2
|
ATP-binding cassette, sub-family D (ALD), member 2
|
|
ACP2
|
acid phosphatase 2, lysosomal
|
|
AGA
|
aspartylglucosaminidase
|
|
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
|
|
CANX
|
calnexin
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CERS1
|
ceramide synthase 1
|
|
CLCN3
|
chloride channel, voltage-sensitive 3
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CNTF
|
ciliary neurotrophic factor
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COQ9
|
coenzyme Q9
|
|
DCR
|
Down syndrome chromosome region
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DRD2
|
dopamine receptor D2
|
|
EN1
|
engrailed homeobox 1
|
|
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
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GRN
|
granulin
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HFE
|
hemochromatosis
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTT
|
huntingtin
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
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
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NFE2L2
|
nuclear factor, erythroid 2-like 2
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
PI4K2A
|
phosphatidylinositol 4-kinase type 2 alpha
|
|
PLP1
|
proteolipid protein 1
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRKAB1
|
protein kinase, AMP-activated, beta 1 non-catalytic subunit
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
SCYL1
|
SCY1-like 1 (S. cerevisiae)
|
|
TRIB2
|
tribbles pseudokinase 2
|
|
TSPAN2
|
tetraspanin 2
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VEGFA
|
vascular endothelial growth factor A
|
