emg: myopathic abnormalities Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. (Human Phenotype Ontology, HP_0003458)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003458
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25 genes associated with the emg: myopathic abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ANO5 anoctamin 5
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
CRYAB crystallin, alpha B
DES desmin
DYSF dysferlin
FKRP fukutin related protein
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LMNA lamin A/C
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
POLG polymerase (DNA directed), gamma
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TK2 thymidine kinase 2, mitochondrial
TNPO3 transportin 3
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TTN titin