Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
0.300 Biomarker phenotype CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810 2006