| Symbol |
Name |
|
ABHD12
|
abhydrolase domain containing 12
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AFP
|
alpha-fetoprotein
|
|
AHCY
|
adenosylhomocysteinase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
APTX
|
aprataxin
|
|
ATP1A1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide
|
|
ATXN2
|
ataxin 2
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CNTN1
|
contactin 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DHH
|
desert hedgehog
|
|
DNAJC3
|
DnaJ (Hsp40) homolog, subfamily C, member 3
|
|
DNM1L
|
dynamin 1-like
|
|
DNM2
|
dynamin 2
|
|
FDX2
|
ferredoxin 2
|
|
GALC
|
galactosylceramidase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
IARS2
|
isoleucyl-tRNA synthetase 2, mitochondrial
|
|
IFRD1
|
interferon-related developmental regulator 1
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF5A
|
kinesin family member 5A
|
|
LAMA2
|
laminin, alpha 2
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
MAG
|
myelin associated glycoprotein
|
|
MAL
|
mal, T-cell differentiation protein
|
|
MME
|
membrane metallo-endopeptidase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND2
|
MTND2
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
ND1
|
|
|
NEFH
|
neurofilament, heavy polypeptide
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NFASC
|
neurofascin
|
|
NGLY1
|
N-glycanase 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDYN
|
prodynorphin
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RNASEH1
|
ribonuclease H1
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SCYL1
|
SCY1-like 1 (S. cerevisiae)
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TFG
|
TRK-fused gene
|
|
TTR
|
transthyretin
|
|
TYMP
|
thymidine phosphorylase
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
