ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963674
Disease: Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 10
0.010 Biomarker disease BEFREE This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype. 25630585 2015