spastic ataxia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002497
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Genes

3 genes associated with the spastic ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
SACS sacsin molecular chaperone
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)