Bethlem Myopathy Gene Set
Genes
17 genes associated with the disease Bethlem Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ANO5
|
anoctamin 5
|
|
CAPN3
|
calpain 3, (p94)
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL6A5
|
collagen, type VI, alpha 5
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DMD
|
dystrophin
|
|
FKRP
|
fukutin related protein
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
LAMB1
|
laminin, beta 1
|
|
LEP
|
leptin
|
|
LMNA
|
lamin A/C
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
VWF
|
von Willebrand factor
|
