Central core disease Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3529)
External Link http://www.omim.org/entry/117000
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Genes

1 genes associated with the Central core disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
RYR1 ryanodine receptor 1 (skeletal)