Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
0.300 Biomarker disease CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810 2006