olivopontocerebellar atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. (Human Disease Ontology, DOID_14784)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002542
Similar Terms
Downloads & Tools


6 genes associated with the olivopontocerebellar atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN7 ataxin 7
ERCC6 excision repair cross-complementation group 6
MBTPS2 membrane-bound transcription factor peptidase, site 2
TTC19 tetratricopeptide repeat domain 19