Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.300 Biomarker phenotype CTD_human The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. 19261867 2009