| Symbol |
Name |
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AR
|
androgen receptor
|
|
ARX
|
aristaless related homeobox
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FTL
|
ferritin, light polypeptide
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IRX5
|
iroquois homeobox 5
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMNB1
|
lamin B1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MATR3
|
matrin 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MID1
|
midline 1
|
|
MPZ
|
myelin protein zero
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
MYOT
|
myotilin
|
|
NEB
|
nebulin
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NUP62
|
nucleoporin 62kDa
|
|
OPTN
|
optineurin
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PFN1
|
profilin 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
REEP1
|
receptor accessory protein 1
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETX
|
senataxin
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SYT14
|
synaptotagmin XIV
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBP
|
TATA box binding protein
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TPM3
|
tropomyosin 3
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
