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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.110 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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.110 Biomarker phenotype HPO