| Symbol |
Name |
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
AR
|
androgen receptor
|
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
|
ATXN3
|
ataxin 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV3
|
caveolin 3
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DOK7
|
docking protein 7
|
|
FBXO38
|
F-box protein 38
|
|
FKRP
|
fukutin related protein
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GLA
|
galactosidase, alpha
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LDHA
|
lactate dehydrogenase A
|
|
MPZ
|
myelin protein zero
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYF6
|
myogenic factor 6 (herculin)
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
STIM1
|
stromal interaction molecule 1
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
