Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
0.020 GeneticVariation disease BEFREE The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. 26157024 2016
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
0.020 GeneticVariation disease BEFREE CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015