bethlem myopathy Gene Set
Genes
27 genes co-occuring with the disease bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
| Symbol |
Name |
Standardized Value |
|
COL6A2
|
collagen, type VI, alpha 2
|
2.84743
|
|
COL6A3
|
collagen, type VI, alpha 3
|
2.8184
|
|
COL6A1
|
collagen, type VI, alpha 1
|
2.72301
|
|
COL6A5
|
collagen, type VI, alpha 5
|
1.51106
|
|
PPIF
|
peptidylprolyl isomerase F
|
1.27432
|
|
ANO5
|
anoctamin 5
|
1.08621
|
|
COL12A1
|
collagen, type XII, alpha 1
|
1.00583
|
|
SLC39A2
|
solute carrier family 39 (zinc transporter), member 2
|
0.980952
|
|
PFKL
|
phosphofructokinase, liver
|
0.77207
|
|
CAPN3
|
calpain 3, (p94)
|
0.730166
|
|
SEPN1
|
selenoprotein N, 1
|
0.673917
|
|
DYSF
|
dysferlin
|
0.641433
|
|
LAMA2
|
laminin, alpha 2
|
0.619834
|
|
LMNA
|
lamin A/C
|
0.619051
|
|
DMD
|
dystrophin
|
0.516494
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
0.488549
|
|
FKRP
|
fukutin related protein
|
0.42289
|
|
VWF
|
von Willebrand factor
|
0.406051
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
0.404557
|
|
BNIP3
|
BCL2/adenovirus E1B 19kDa interacting protein 3
|
0.403811
|
|
CAV3
|
caveolin 3
|
0.35082
|
|
EMD
|
emerin
|
0.268332
|
|
FN1
|
fibronectin 1
|
0.240497
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
0.226607
|
|
MYOG
|
myogenin (myogenic factor 4)
|
0.199356
|
|
BECN1
|
beclin 1, autophagy related
|
0.168381
|
|
COL1A1
|
collagen, type I, alpha 1
|
0.163111
|
