ATXN8OS, ATXN8 opposite strand lncRNA, 6315

N. diseases: 91; N. variants: 0
Disease: Machado-Joseph Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		0.020 GeneticVariation disease BEFREE Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration. 11939898 2002
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		0.020 GeneticVariation disease LHGDN A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. 11697524 2001