type 2 muscle fiber atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. (Human Phenotype Ontology, HP_0003554)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003554
Similar Terms
Downloads & Tools


10 genes associated with the type 2 muscle fiber atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CNBP CCHC-type zinc finger, nucleic acid binding protein
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
MUSK muscle, skeletal, receptor tyrosine kinase
RAPSN receptor-associated protein of the synapse
SARS2 seryl-tRNA synthetase 2, mitochondrial