| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ARHGEF10
|
Rho guanine nucleotide exchange factor (GEF) 10
|
|
ARSA
|
arylsulfatase A
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CEP126
|
centrosomal protein 126kDa
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EGR2
|
early growth response 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FBN1
|
fibrillin 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FXN
|
frataxin
|
|
GALC
|
galactosylceramidase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HK1
|
hexokinase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
KIF1B
|
kinesin family member 1B
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LYST
|
lysosomal trafficking regulator
|
|
MATR3
|
matrin 3
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MPZ
|
myelin protein zero
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
NALCN
|
sodium leak channel, non selective
|
|
ND1
|
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PMP22
|
peripheral myelin protein 22
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TNXB
|
tenascin XB
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
