| Symbol |
Name |
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
AGK
|
acylglycerol kinase
|
|
AGRN
|
agrin
|
|
ANO5
|
anoctamin 5
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CAPN3
|
calpain 3, (p94)
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
ENO3
|
enolase 3 (beta, muscle)
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBXO38
|
F-box protein 38
|
|
FHL1
|
four and a half LIM domains 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FLNC
|
filamin C, gamma
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GYS1
|
glycogen synthase 1 (muscle)
|
|
HK1
|
hexokinase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KIF1C
|
kinesin family member 1C
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LDHA
|
lactate dehydrogenase A
|
|
LMNA
|
lamin A/C
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
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
|
|
NEB
|
nebulin
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PRX
|
periaxin
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RSPH4A
|
radial spoke head 4 homolog A (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SBF2
|
SET binding factor 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SETX
|
senataxin
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
STIM1
|
stromal interaction molecule 1
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAZ
|
tafazzin
|
|
TCAP
|
titin-cap
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGM6
|
transglutaminase 6
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
