| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACY1
|
aminoacylase 1
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ANO10
|
anoctamin 10
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
APTX
|
aprataxin
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATXN10
|
ataxin 10
|
|
ATXN3
|
ataxin 3
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BTD
|
biotinidase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ9
|
coenzyme Q9
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EXOSC3
|
exosome component 3
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGF14
|
fibroblast growth factor 14
|
|
FKRP
|
fukutin related protein
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIAA0226
|
KIAA0226
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1C
|
kinesin family member 1C
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MCOLN1
|
mucolipin 1
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MVK
|
mevalonate kinase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NUBPL
|
nucleotide binding protein-like
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDYN
|
prodynorphin
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNF216
|
ring finger protein 216
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SETX
|
senataxin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBP
|
TATA box binding protein
|
|
TGM6
|
transglutaminase 6
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
|
WDR81
|
WD repeat domain 81
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF592
|
zinc finger protein 592
|
