| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ANKFY1
|
ankyrin repeat and FYVE domain containing 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
COQ8A
|
coenzyme Q8A
|
|
CRMP1
|
collapsin response mediator protein 1
|
|
DAPK2
|
death-associated protein kinase 2
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCPS
|
decapping enzyme, scavenger
|
|
DDHD2
|
DDHD domain containing 2
|
|
DENR
|
density-regulated protein
|
|
DNM1L
|
dynamin 1-like
|
|
FXN
|
frataxin
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GLRX5
|
glutaredoxin 5
|
|
KIF1C
|
kinesin family member 1C
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
NKX6-2
|
NK6 homeobox 2
|
|
P4HB
|
prolyl 4-hydroxylase, beta polypeptide
|
|
PDXP
|
pyridoxal (pyridoxine, vitamin B6) phosphatase
|
|
PLP1
|
proteolipid protein 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PRDM8
|
PR domain containing 8
|
|
PRDX5
|
peroxiredoxin 5
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
SACS
|
sacsin molecular chaperone
|
|
SETX
|
senataxin
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SUN2
|
Sad1 and UNC84 domain containing 2
|
|
TBCE
|
tubulin folding cofactor E
|
|
TMEM206
|
transmembrane protein 206
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TUBB2A
|
tubulin, beta 2A class IIa
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB6
|
tubulin, beta 6 class V
|
|
UTRN
|
utrophin
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VIM
|
vimentin
|
