Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673697
Disease: Dystonia with Cerebellar Atrophy
Dystonia with Cerebellar Atrophy
0.010 Biomarker phenotype BEFREE Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. 30723199 2019