Spinal muscular atrophy Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. (Human Disease Ontology, DOID_12377)
External Link http://purl.bioontology.org/ontology/SNOMEDCT/5262007
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1 genes associated with the Spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1