Bethlem myopathy 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_0050663)
External Link http://www.omim.org/entry/158810
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Genes

3 genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3