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: C4551520
Disease: Intention tremor
Intention tremor
0.130 GeneticVariation phenotype BEFREE We performed DBS of the ventral intermediate nucleus (Vim) of the thalamus for treatment of coarse action tremor in a patient with SCA2 (spinocerebellar ataxia type 2) in the wheelchair-bound stage. 31743916 2019
CUI: C4551520
Disease: Intention tremor
Intention tremor
0.130 Biomarker phenotype BEFREE Slow saccades, hyporeflexia, myoclonus, and action tremor proposed SCA2. 9403486 1997
CUI: C4551520
Disease: Intention tremor
Intention tremor
0.130 Biomarker phenotype BEFREE Multipoint analysis and haplotype reconstruction reduced the interval containing the SCA2 locus to 6.4 cM, a narrowing of the 35-cM interval in a previously described Cuban SCA2 family with a clinical picture similar to that of our family, including a high frequency of postural and action tremor. 8058142 1994
CUI: C4551520
Disease: Intention tremor
Intention tremor
0.130 Biomarker phenotype HPO