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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.110 GeneticVariation disease BEFREE Brainstem and cerebellar atrophy are the most important features in magnetic resonance imaging (MRI) in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). 19934555 2010
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.110 Biomarker disease HPO