fasciculations Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. (Human Phenotype Ontology, HP_0002380)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002380
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Genes

34 genes associated with the fasciculations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANO10 anoctamin 10
AR androgen receptor
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATXN2 ataxin 2
ATXN3 ataxin 3
BICD2 bicaudal D homolog 2 (Drosophila)
CHMP2B charged multivesicular body protein 2B
ELOVL4 ELOVL fatty acid elongase 4
FBXO38 F-box protein 38
FUS FUS RNA binding protein
GLA galactosidase, alpha
HEXB hexosaminidase B (beta polypeptide)
HINT1 histidine triad nucleotide binding protein 1
HSPB1 heat shock 27kDa protein 1
KIF1C kinesin family member 1C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
NOP56 NOP56 ribonucleoprotein
OPTN optineurin
PFN1 profilin 1
PNPLA2 patatin-like phospholipase domain containing 2
PSAP prosaposin
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMN1 survival of motor neuron 1, telomeric
SOD1 superoxide dismutase 1, soluble
TFG TRK-fused gene
TSPYL1 TSPY-like 1
UBA1 ubiquitin-like modifier activating enzyme 1
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VRK1 vaccinia related kinase 1