Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
0.010 GeneticVariation disease BEFREE Our objective was to describe the frequency of mutations associated with KCNC3 in a large cohort of index patients with sporadic or familial ataxia presenting to three US ataxia clinics at academic medical centers. 21479265 2011