blepharospasm Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (Human Disease Ontology, DOID_529)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000643
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Genes

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

Symbol Name
ANO3 anoctamin 3
CP ceruloplasmin (ferroxidase)
FTL ferritin, light polypeptide
PANK2 pantothenate kinase 2
PARK7 parkinson protein 7
TOR1A torsin family 1, member A (torsin A)