Disease: Dystonia Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.030 Biomarker group BEFREE Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia. 14769375 2003
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.030 Biomarker group BEFREE This new model suggests that SCN8A on chromosome 12q13 and SCNM1 on chromosome 1p21-1q21 may contribute to human inherited dystonia. 9949206 1999
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.030 GeneticVariation group BEFREE The phenotypes of four allelic mutations identified in the sodium channel gene Scn8a range from ataxia and muscle weakness through severe dystonia and progressive paralysis, indicating that human mutations in this gene could be associated with a variety of clinical syndromes. 9562526 1997