spinal muscular atrophy Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0007269
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8 genes associated with the spinal muscular atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
IGHMBP2 immunoglobulin mu binding protein 2
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
SMN1 survival of motor neuron 1, telomeric
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VRK1 vaccinia related kinase 1