rs766001707, ATXN3

N. diseases: 6
Disease: Machado-Joseph Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Machado-Joseph Disease
CUI: C0024408
Disease: Machado-Joseph Disease
0.010 GeneticVariation BEFREE Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. 16630162 2006