ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.020 Biomarker group BEFREE Machado-Joseph disease, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3). 22451301 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.020 Biomarker group BEFREE Machado-Joseph disease also called spinocerebellar ataxia type 3 (MJD/SCA3) is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a polyglutamine expansion (mutant ataxin-3). 17632007 2007