| Symbol |
Name |
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AP2M1
|
adaptor-related protein complex 2, mu 1 subunit
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATN1
|
atrophin 1
|
|
ATXN2
|
ataxin 2
|
|
BRD2
|
bromodomain containing 2
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CARS2
|
cysteinyl-tRNA synthetase 2, mitochondrial (putative)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CERS1
|
ceramide synthase 1
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX2
|
|
|
CPLX1
|
complexin 1
|
|
CSNK2B
|
casein kinase 2, beta polypeptide
|
|
CST3
|
cystatin C
|
|
CSTB
|
cystatin B (stefin B)
|
|
DIRAS1
|
DIRAS family, GTP-binding RAS-like 1
|
|
EEF1A2
|
eukaryotic translation elongation factor 1 alpha 2
|
|
EFHC1
|
EF-hand domain (C-terminal) containing 1
|
|
EFHC2
|
EF-hand domain (C-terminal) containing 2
|
|
EMP1
|
epithelial membrane protein 1
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXG1
|
forkhead box G1
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GBA
|
glucosidase, beta, acid
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GPR37
|
G protein-coupled receptor 37 (endothelin receptor type B-like)
|
|
GPR37L1
|
G protein-coupled receptor 37 like 1
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
INPP4A
|
inositol polyphosphate-4-phosphatase, type I, 107kDa
|
|
JRK
|
Jrk homolog (mouse)
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIF5A
|
kinesin family member 5A
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
LSM2
|
LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
MARCH6
|
membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MUL1
|
mitochondrial E3 ubiquitin protein ligase 1
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NMBR
|
neuromedin B receptor
|
|
NUS1
|
nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDE7B
|
phosphodiesterase 7B
|
|
PIGW
|
phosphatidylinositol glycan anchor biosynthesis, class W
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMC
|
proopiomelanocortin
|
|
PRDM8
|
PR domain containing 8
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRNP
|
prion protein
|
|
PWP2
|
PWP2 periodic tryptophan protein homolog (yeast)
|
|
RAPGEF2
|
Rap guanine nucleotide exchange factor (GEF) 2
|
|
RFX3
|
regulatory factor X, 3 (influences HLA class II expression)
|
|
SACS
|
sacsin molecular chaperone
|
|
SAMD12
|
sterile alpha motif domain containing 12
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETD1B
|
SET domain containing 1B
|
|
SLC1A6
|
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC6A1
|
solute carrier family 6 (neurotransmitter transporter), member 1
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNURF
|
SNRPN upstream reading frame
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
STMN1
|
stathmin 1
|
|
STX1B
|
syntaxin 1B
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFF1
|
trefoil factor 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TNRC6A
|
trinucleotide repeat containing 6A
|
|
TRIT1
|
tRNA isopentenyltransferase 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
U2AF1
|
U2 small nuclear RNA auxiliary factor 1
|
|
ZNF645
|
zinc finger protein 645
|
