| Symbol |
Name |
|
AGRN
|
agrin
|
|
AIRE
|
autoimmune regulator
|
|
AKAP12
|
A kinase (PRKA) anchor protein 12
|
|
ANP32E
|
acidic (leucine-rich) nuclear phosphoprotein 32 family, member E
|
|
ARAF
|
A-Raf proto-oncogene, serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP2B2
|
ATPase, Ca++ transporting, plasma membrane 2
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATXN1
|
ataxin 1
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CACNA2D2
|
calcium channel, voltage-dependent, alpha 2/delta subunit 2
|
|
CAMK4
|
calcium/calmodulin-dependent protein kinase IV
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCND1
|
cyclin D1
|
|
CDH23
|
cadherin-related 23
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CERS6
|
ceramide synthase 6
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
CPLX2
|
complexin 2
|
|
CTNNA2
|
catenin (cadherin-associated protein), alpha 2
|
|
CTSF
|
cathepsin F
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DBNL
|
drebrin-like
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DMTF1
|
cyclin D binding myb-like transcription factor 1
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DOCK3
|
dedicator of cytokinesis 3
|
|
DPYSL5
|
dihydropyrimidinase-like 5
|
|
DST
|
dystonin
|
|
DYSF
|
dysferlin
|
|
ELAVL4
|
ELAV like neuron-specific RNA binding protein 4
|
|
EPB41L3
|
erythrocyte membrane protein band 4.1-like 3
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPHA4
|
EPH receptor A4
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
FBN2
|
fibrillin 2
|
|
FGF14
|
fibroblast growth factor 14
|
|
FKRP
|
fukutin related protein
|
|
FOXB1
|
forkhead box B1
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GLB1
|
galactosidase, beta 1
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HELT
|
helt bHLH transcription factor
|
|
HERC1
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HIPK2
|
homeodomain interacting protein kinase 2
|
|
HOXB8
|
homeobox B8
|
|
HOXC8
|
homeobox C8
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
HTT
|
huntingtin
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INPP4A
|
inositol polyphosphate-4-phosphatase, type I, 107kDa
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMC1
|
laminin, gamma 1 (formerly LAMB2)
|
|
LARGE
|
like-glycosyltransferase
|
|
LPIN1
|
lipin 1
|
|
LRRC7
|
leucine rich repeat containing 7
|
|
LTN1
|
listerin E3 ubiquitin protein ligase 1
|
|
MAFG
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G
|
|
MCOLN1
|
mucolipin 1
|
|
MECOM
|
MDS1 and EVI1 complex locus
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEOX2
|
mesenchyme homeobox 2
|
|
MPZ
|
myelin protein zero
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYO7A
|
myosin VIIA
|
|
NDFIP2
|
Nedd4 family interacting protein 2
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NGFR
|
nerve growth factor receptor
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NPAS3
|
neuronal PAS domain protein 3
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NRD1
|
nardilysin (N-arginine dibasic convertase)
|
|
NTF3
|
neurotrophin 3
|
|
NTRK3
|
neurotrophic tyrosine kinase, receptor, type 3
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAX5
|
paired box 5
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PI4K2A
|
phosphatidylinositol 4-kinase type 2 alpha
|
|
PMP22
|
peripheral myelin protein 22
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PREX2
|
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PSIP1
|
PC4 and SFRS1 interacting protein 1
|
|
RAI1
|
retinoic acid induced 1
|
|
RND3
|
Rho family GTPase 3
|
|
RORA
|
RAR-related orphan receptor A
|
|
RORB
|
RAR-related orphan receptor B
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
SATB1
|
SATB homeobox 1
|
|
SBF2
|
SET binding factor 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHANK2
|
SH3 and multiple ankyrin repeat domains 2
|
|
SHH
|
sonic hedgehog
|
|
SIX1
|
SIX homeobox 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPTBN4
|
spectrin, beta, non-erythrocytic 4
|
|
STAM
|
signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
|
|
STAMBP
|
STAM binding protein
|
|
STRBP
|
spermatid perinuclear RNA binding protein
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TARDBP
|
TAR DNA binding protein
|
|
TP53COR1
|
tumor protein p53 pathway corepressor 1 (non-protein coding)
|
|
TRIB2
|
tribbles pseudokinase 2
|
|
TRPC3
|
transient receptor potential cation channel, subfamily C, member 3
|
|
TRPM7
|
transient receptor potential cation channel, subfamily M, member 7
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
USP14
|
ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS54
|
vacuolar protein sorting 54 homolog (S. cerevisiae)
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
