| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
AGK
|
acylglycerol kinase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ATP5E
|
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CALR3
|
calreticulin 3
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAV3
|
caveolin 3
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
DES
|
desmin
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DMD
|
dystrophin
|
|
DOLK
|
dolichol kinase
|
|
DSG2
|
desmoglein 2
|
|
DSP
|
desmoplakin
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ELN
|
elastin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FHL1
|
four and a half LIM domains 1
|
|
FHL2
|
four and a half LIM domains 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKTN
|
fukutin
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTO
|
fat mass and obesity associated
|
|
FXN
|
frataxin
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA4
|
GATA binding protein 4
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBB
|
hemoglobin, beta
|
|
HCCS
|
holocytochrome c synthase
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IL12B
|
interleukin 12B
|
|
JUP
|
junction plakoglobin
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LDB3
|
LIM domain binding 3
|
|
LIAS
|
lipoic acid synthetase
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MRPL3
|
mitochondrial ribosomal protein L3
|
|
MRPL44
|
mitochondrial ribosomal protein L44
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYL3
|
myosin, light chain 3, alkali; ventricular, skeletal, slow
|
|
MYLK2
|
myosin light chain kinase 2
|
|
MYOZ2
|
myozenin 2
|
|
MYPN
|
myopalladin
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
ND1
|
|
|
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
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NF1
|
neurofibromin 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NUBPL
|
nucleotide binding protein-like
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
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
|
|
PLN
|
phospholamban
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBM20
|
RNA binding motif protein 20
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A3
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAZ
|
tafazzin
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCAP
|
titin-cap
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TMEM70
|
transmembrane protein 70
|
|
TMPO
|
thymopoietin
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TRNE
|
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
VCL
|
vinculin
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
