emg: neuropathic changes Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). (Human Phenotype Ontology, HP_0003445)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003445
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20 genes associated with the emg: neuropathic changes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ARSA arylsulfatase A
ATP7A ATPase, Cu++ transporting, alpha polypeptide
DCAF8 DDB1 and CUL4 associated factor 8
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
GDAP1 ganglioside induced differentiation associated protein 1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
IGHMBP2 immunoglobulin mu binding protein 2
LDB3 LIM domain binding 3
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEB nebulin
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMN1 survival of motor neuron 1, telomeric
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VRK1 vaccinia related kinase 1