ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 Biomarker phenotype BEFREE Dystonia was more common in patients with SCA3 (46%), and absent ankle jerk was more common in those with SCA2 (21.4%). 30158163 2018
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 GeneticVariation phenotype BEFREE Factors associated with shorter survival were: dysphagia (hazard ratio 4·52, 95% CI 1·83-11·15) and a higher value for the Scale for the Assessment and Rating of Ataxia (SARA) score (1·26, 1·19-1·33) for patients with SCA1; older age at inclusion (1·04, 1·01-1·08), longer CAG repeat length (1·16, 1·03-1·31), and higher SARA score (1·15, 1·10-1·20) for patients with SCA2; older age at inclusion (1·44, 1·20-1·74), dystonia (2·65, 1·21-5·53), higher SARA score (1·26, 1·17-1·35), and negative interaction between CAG and age at inclusion (0·994, 0·991-0·997) for patients with SCA3; and higher SARA score (1·17, 1·08-1·27) for patients with SCA6. 29553382 2018
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 GeneticVariation phenotype BEFREE Dystonia was associated with longer CAG repeats in SCA3. 29089256 2017
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 Biomarker phenotype BEFREE In SCA3 the common EPS were bradykinesia (44.4%), staring look, postural tremor and dystonia (33.3% each), and reduced facial expression and rigidity (22.2% each). 24602359 2014
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 GeneticVariation phenotype BEFREE Progression was faster in patients with SCA2 mutations and normal alleles with 22 or fewer repeats (P = .02) and in patients with SCA3 mutations with parkinsonism and/or dystonia at baseline (P = .003). 22491195 2012
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 GeneticVariation phenotype BEFREE This study demonstrates the use of LV encoding mutant ataxin-3 to produce a model of MJD and brings evidence of striatal pathology, suggesting that this region may contribute to dystonia and chorea observed in some MJD patients and may represent a target for therapies. 18385100 2008
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 Biomarker phenotype BEFREE There were characteristic clinical features such as hypotonia and optic atrophy for SCA1; hyporeflexia for SCA2; nystagmus, bulging eye, and dystonia for SCA3; and macular degeneration for SCA7. 12810491 2003
CUI: C0013421
Disease: Dystonia
Dystonia
0.170 Biomarker phenotype HPO