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: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal
0.110 AlteredExpression phenotype BEFREE This study involved the clinical response of lamotrigine (LTG) on six MJD patients with early truncal ataxia and the effect of LTG on the alteration of ataxin-3 expression in the transformed MJD lymphoblastoid cells. 15876340 2005
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal
0.110 Biomarker phenotype HPO