bethlem myopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050663)
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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