ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Disease: Dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia 		0.130 Biomarker disease BEFREE The CAG-expansion in ATXN2 likely caused the ataxia, whereas the dementia may be linked to both C9orf72 and ATXN2 repeat expansions. 28124431 2017
CUI: C0497327
Disease: Dementia
Dementia 		0.130 GeneticVariation disease LHGDN Homozygous SCA 2 mutations changes phenotype and hastens progression. 18265007 2008
CUI: C0497327
Disease: Dementia
Dementia 		0.130 GeneticVariation disease BEFREE Genetic analysis performed on a large Thai kindred with autosomal dominant cerebellar ataxia, in which frontal lobe signs and dementia are commonly observed in affected family members, exclude linkage to the SCA1, SCA2 and MJD loci. 8162021 1994
CUI: C0497327
Disease: Dementia
Dementia 		0.130 Biomarker disease HPO