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