| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
APTX
|
aprataxin
|
|
ATAD3A
|
ATPase family, AAA domain containing 3A
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GAT1
|
beta-1,3-glucuronyltransferase 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CD28
|
CD28 molecule
|
|
CD80
|
CD80 molecule
|
|
CD86
|
CD86 molecule
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
DNM2
|
dynamin 2
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB2
|
heat shock 27kDa protein 2
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
JPH1
|
junctophilin 1
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNA
|
lamin A/C
|
|
MAD2L1BP
|
MAD2L1 binding protein
|
|
MFN2
|
mitofusin 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUL1
|
mitochondrial E3 ubiquitin protein ligase 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PIGB
|
phosphatidylinositol glycan anchor biosynthesis, class B
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
SBF1
|
SET binding factor 1
|
|
SETX
|
senataxin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SURF1
|
surfeit 1
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TOP1
|
topoisomerase (DNA) I
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTR
|
transthyretin
|
|
TWNK
|
twinkle mtDNA helicase
|
|
UCHL3
|
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
|
|
ZNF645
|
zinc finger protein 645
|
