Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia
0.010 GeneticVariation disease BEFREE Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. 21749991 2011