ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Disease: Friedreich Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.010 Biomarker disease BEFREE The authors found allele sizes within the proposed pathogenic range in three patients with ataxia of unknown etiology, in two individuals from pedigrees with either SCA2 or Friedreich's ataxia, and in two patients with Alzheimer's disease. 11591855 2001