Property:Genetic defect results in disease

Definition
This category describes the collection of genes with defects (caused by mutations) known to cause disease. For example, defects in genes like Kv1.1 caused by mutations can have the consequence of producing diseases like episodic ataxia.

External formal definitions

 * 1) equivalent URI:=http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl

subproperty of::is_associated_with