amyoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. (Human Phenotype Ontology, HP_0003634)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003634
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Genes

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

Symbol Name
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
TRPV4 transient receptor potential cation channel, subfamily V, member 4