Vacuolar Myopathy Gene Set
Genes
16 genes associated with the disease Vacuolar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ATG7
|
autophagy related 7
|
|
CASQ1
|
calsequestrin 1 (fast-twitch, skeletal muscle)
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
DES
|
desmin
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
PIK3R4
|
phosphoinositide-3-kinase, regulatory subunit 4
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
SQSTM1
|
sequestosome 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
VCP
|
valosin containing protein
|
|
VMA21
|
VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
