| Symbol |
Name |
|
AADAT
|
aminoadipate aminotransferase
|
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA2
|
ATP-binding cassette, sub-family A (ABC1), member 2
|
|
ABCD2
|
ATP-binding cassette, sub-family D (ALD), member 2
|
|
AFF1
|
AF4/FMR2 family, member 1
|
|
AGA
|
aspartylglucosaminidase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANK2
|
ankyrin 2, neuronal
|
|
ARSA
|
arylsulfatase A
|
|
ATP2B2
|
ATPase, Ca++ transporting, plasma membrane 2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BLOC1S4
|
biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
|
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CCR10
|
chemokine (C-C motif) receptor 10
|
|
CERS1
|
ceramide synthase 1
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLRN1
|
clarin 1
|
|
CNTNAP1
|
contactin associated protein 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTSF
|
cathepsin F
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
DAB1
|
Dab, reelin signal transducer, homolog 1 (Drosophila)
|
|
DLG4
|
discs, large homolog 4 (Drosophila)
|
|
DSCAM
|
Down syndrome cell adhesion molecule
|
|
DST
|
dystonin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESPN
|
espin
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FGF14
|
fibroblast growth factor 14
|
|
GAS1
|
growth arrest-specific 1
|
|
GMFB
|
glia maturation factor, beta
|
|
GNAS
|
GNAS complex locus
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRIN2C
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2C
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
HCN2
|
hyperpolarization activated cyclic nucleotide gated potassium channel 2
|
|
HMX2
|
H6 family homeobox 2
|
|
HMX3
|
H6 family homeobox 3
|
|
HSD17B2
|
hydroxysteroid (17-beta) dehydrogenase 2
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HTT
|
huntingtin
|
|
IFITM1
|
interferon induced transmembrane protein 1
|
|
IREB2
|
iron-responsive element binding protein 2
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAG1
|
jagged 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIF14
|
kinesin family member 14
|
|
KIF1A
|
kinesin family member 1A
|
|
LAMA4
|
laminin, alpha 4
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
LTN1
|
listerin E3 ubiquitin protein ligase 1
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAOA
|
monoamine oxidase A
|
|
MAPT
|
microtubule-associated protein tau
|
|
MYH10
|
myosin, heavy chain 10, non-muscle
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
NAPA
|
N-ethylmaleimide-sensitive factor attachment protein, alpha
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NEUROD4
|
neuronal differentiation 4
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NOX3
|
NADPH oxidase 3
|
|
NOXO1
|
NADPH oxidase organizer 1
|
|
NR4A3
|
nuclear receptor subfamily 4, group A, member 3
|
|
OTOG
|
otogelin
|
|
PAH
|
phenylalanine hydroxylase
|
|
PCDH15
|
protocadherin-related 15
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PSAP
|
prosaposin
|
|
RELN
|
reelin
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
RORA
|
RAR-related orphan receptor A
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC12A2
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SPTBN4
|
spectrin, beta, non-erythrocytic 4
|
|
SRRM4
|
serine/arginine repetitive matrix 4
|
|
TMIE
|
transmembrane inner ear
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TRPC3
|
transient receptor potential cation channel, subfamily C, member 3
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
VIM
|
vimentin
|
|
WASF1
|
WAS protein family, member 1
|
