| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
ADCY6
|
adenylate cyclase 6
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANO5
|
anoctamin 5
|
|
APOA1
|
apolipoprotein A-I
|
|
ARSA
|
arylsulfatase A
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CASR
|
calcium-sensing receptor
|
|
CAV3
|
caveolin 3
|
|
CEP126
|
centrosomal protein 126kDa
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DOLK
|
dolichol kinase
|
|
DRD5
|
dopamine receptor D5
|
|
DSG2
|
desmoglein 2
|
|
DUX4
|
double homeobox 4
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
FHL2
|
four and a half LIM domains 2
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FRG1
|
FSHD region gene 1
|
|
FUS
|
FUS RNA binding protein
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LDB3
|
LIM domain binding 3
|
|
LMNA
|
lamin A/C
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
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-TP
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTM1
|
myotubularin 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
MYPN
|
myopalladin
|
|
ND1
|
|
|
NEB
|
nebulin
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
OAT
|
ornithine aminotransferase
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLN
|
phospholamban
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRDM16
|
PR domain containing 16
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM20
|
RNA binding motif protein 20
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEPT9
|
septin 9
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SMAD4
|
SMAD family member 4
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
TAZ
|
tafazzin
|
|
TCAP
|
titin-cap
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMPO
|
thymopoietin
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TNPO3
|
transportin 3
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TPM3
|
tropomyosin 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTN
|
titin
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCL
|
vinculin
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
