Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040822
Disease: Tremor
Tremor
0.410 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
CUI: C0040822
Disease: Tremor
Tremor
0.410 GeneticVariation phenotype BEFREE Although mutations of Scn8a cause congenital tremor in mice, mutations in the sequence of the exons and splice sites of human SCN8A do not appear to be a common cause of autosomal dominant essential tremor in Caucasian patients. 18718804 2009
CUI: C0040822
Disease: Tremor
Tremor
0.410 CausalMutation phenotype CLINVAR
CUI: C0040822
Disease: Tremor
Tremor
0.410 Biomarker phenotype HPO