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: C1997740
Disease: Segmental dystonia
Segmental dystonia
0.010 GeneticVariation disease BEFREE Focal or segmental dystonia was identified in 4.4% of SCA patients (n = 2 each SCA2 and SCA3). 31523939 2019