Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010