| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTB
|
actin, beta
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AGA
|
aspartylglucosaminidase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ASPA
|
aspartoacylase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COASY
|
CoA synthase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCTN1
|
dynactin 1
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELN
|
elastin
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXG1
|
forkhead box G1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GALC
|
galactosylceramidase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GLA
|
galactosidase, alpha
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTT
|
huntingtin
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNA
|
lamin A/C
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
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
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NTNG1
|
netrin G1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
NUP62
|
nucleoporin 62kDa
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC1A
|
POC1 centriolar protein A
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PSAP
|
prosaposin
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNF216
|
ring finger protein 216
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SERAC1
|
serine active site containing 1
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TLR4
|
toll-like receptor 4
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
