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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Genes

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