| Symbol |
Name |
|
AIRE
|
autoimmune regulator
|
|
ARSA
|
arylsulfatase A
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATXN2
|
ataxin 2
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BET1
|
Bet1 golgi vesicular membrane trafficking protein
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CARS2
|
cysteinyl-tRNA synthetase 2, mitochondrial (putative)
|
|
CDK5R1
|
cyclin-dependent kinase 5, regulatory subunit 1 (p35)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
CST3
|
cystatin C
|
|
CSTB
|
cystatin B (stefin B)
|
|
DHX40
|
DEAH (Asp-Glu-Ala-His) box polypeptide 40
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
GSTT1
|
glutathione S-transferase theta 1
|
|
ITGB2
|
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
LCN2
|
lipocalin 2
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
LSM2
|
LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
MECP2
|
methyl CpG binding protein 2
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
PADI4
|
peptidyl arginine deiminase, type IV
|
|
PFKL
|
phosphofructokinase, liver
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRNP
|
prion protein
|
|
PWP2
|
PWP2 periodic tryptophan protein homolog (yeast)
|
|
SACS
|
sacsin molecular chaperone
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SEC22B
|
SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
STX5
|
syntaxin 5
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TFF1
|
trefoil factor 1
|
|
TMED9
|
transmembrane emp24 protein transport domain containing 9
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TPPP
|
tubulin polymerization promoting protein
|
|
TRAPPC10
|
trafficking protein particle complex 10
|
|
U2AF1
|
U2 small nuclear RNA auxiliary factor 1
|
