SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 GeneticVariation phenotype BEFREE Pyramidal signs and dystonia were more frequent and disease was less severe with missense mutations in the helicase domain of senataxin gene than with missense mutations out of helicase domain and deletion and nonsense mutations (P = 0.001, P = 0.008 and P = 0.01, respectively). 19696032 2009
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 Biomarker phenotype HPO