Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
0.300 Biomarker phenotype CTD_human Altered fast- and slow-twitch muscle fibre characteristics in female mice with a (S248F) knock-in mutation of the brain neuronal nicotinic acetylcholine receptor. 19404753 2009