ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Peripheral Nervous System Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141672872
rs141672872
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8. 20858900 2010
dbSNP: rs762622537
rs762622537
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE Protein aggregation is a hallmark of many neuronal disorders, including the polyglutamine disorder spinocerebellar ataxia 3 and peripheral neuropathies associated with the K141E and K141N mutations in the small heat shock protein HSPB8. 20858900 2010