ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.120 Biomarker disease BEFREE The utility of the protocol was demonstrated on cell cultures from zebrafish that transgenically express disease-causing variants of human fused in sarcoma (FUS) and ataxin-3 proteins, in order to study amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia type-3 (SCA3), respectively. 30190267 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.120 GeneticVariation disease GWASCAT Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 29566793 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.120 GeneticVariation disease BEFREE No association was found between polyQ expansions in Ataxin-3 (ATXN3) and ALS risk. 21889984 2012