| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADSSL1
|
adenylosuccinate synthase like 1
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGRN
|
agrin
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
|
ANO5
|
anoctamin 5
|
|
APTX
|
aprataxin
|
|
ATAD3A
|
ATPase family, AAA domain containing 3A
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHP1
|
calcineurin-like EF-hand protein 1
|
|
COA7
|
cytochrome c oxidase assembly factor 7 (putative)
|
|
COASY
|
CoA synthase
|
|
COL13A1
|
collagen, type XIII, alpha 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DCTN1
|
dynactin 1
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
FBLN5
|
fibulin 5
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
JPH1
|
junctophilin 1
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1C
|
kinesin family member 1C
|
|
KLC2
|
kinesin light chain 2
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRP12
|
low density lipoprotein receptor-related protein 12
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MME
|
membrane metallo-endopeptidase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MSTO1
|
misato 1, mitochondrial distribution and morphology regulator
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYO9A
|
myosin IXA
|
|
MYOT
|
myotilin
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NEFL
|
neurofilament, light polypeptide
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
REEP1
|
receptor accessory protein 1
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SLC18A3
|
solute carrier family 18 (vesicular acetylcholine transporter), member 3
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPART
|
spartin
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTBN4
|
spectrin, beta, non-erythrocytic 4
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SYT2
|
synaptotagmin II
|
|
TBCE
|
tubulin folding cofactor E
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TYMP
|
thymidine phosphorylase
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VPS13D
|
vacuolar protein sorting 13 homolog D (S. cerevisiae)
|
|
YARS1
|
tyrosyl-tRNA synthetase 1
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
