muscle stiffness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A condition in which muscles cannot be moved quickly without accompanying pain or spasm. (Human Phenotype Ontology, HP_0003552)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003552
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Genes

17 genes associated with the muscle stiffness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACADVL acyl-CoA dehydrogenase, very long chain
CAV3 caveolin 3
CLCN1 chloride channel, voltage-sensitive 1
CPT2 carnitine palmitoyltransferase 2
HINT1 histidine triad nucleotide binding protein 1
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
LDHA lactate dehydrogenase A
MYOT myotilin
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PTRF polymerase I and transcript release factor
REEP2 receptor accessory protein 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
STIM1 stromal interaction molecule 1
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)