| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTB
|
actin, beta
|
|
ADCY5
|
adenylate cyclase 5
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ANO3
|
anoctamin 3
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
APTX
|
aprataxin
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN3
|
ataxin 3
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
COASY
|
CoA synthase
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLEC11
|
collectin sub-family member 11
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DRD2
|
dopamine receptor D2
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FBXO7
|
F-box protein 7
|
|
FOXG1
|
forkhead box G1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAL
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
JPH3
|
junctophilin 3
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
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)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NUP62
|
nucleoporin 62kDa
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSEN1
|
presenilin 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNASET2
|
ribonuclease T2
|
|
SCP2
|
sterol carrier protein 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SERAC1
|
serine active site containing 1
|
|
SETX
|
senataxin
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUOX
|
sulfite oxidase
|
|
SURF1
|
surfeit 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYNJ1
|
synaptojanin 1
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBP
|
TATA box binding protein
|
|
TGM6
|
transglutaminase 6
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UPB1
|
ureidopropionase, beta
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF592
|
zinc finger protein 592
|
