Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
0.030 GeneticVariation disease BEFREE CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
0.030 GeneticVariation disease BEFREE These results do not support a causal association between the CACNA1B c.4166G>A; (p.R1389H) variant and M-D. 26157024 2015
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
0.030 GeneticVariation disease BEFREE Commentary to: CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.(Hum.Mol.Genet.2015, pp.987-993). 26218636 2015