| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AGRN
|
agrin
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANO5
|
anoctamin 5
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
BMS1
|
BMS1 ribosome biogenesis factor
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CAPN3
|
calpain 3, (p94)
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
DCTN1
|
dynactin 1
|
|
DES
|
desmin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FKRP
|
fukutin related protein
|
|
GAN
|
gigaxonin
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
HOXB1
|
homeobox B1
|
|
LARGE
|
like-glycosyltransferase
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MTM1
|
myotubularin 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NEB
|
nebulin
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
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
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SOST
|
sclerostin
|
|
SPEG
|
SPEG complex locus
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
TAZ
|
tafazzin
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
VCP
|
valosin containing protein
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
