ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Familial Amyloid Neuropathy, Portuguese Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766001707
rs766001707
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0268384
Disease:
Familial Amyloid Neuropathy, Portuguese Type 		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