ATXN1, ataxin 1, 6310

N. diseases: 218; N. variants: 24
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 		0.020 Biomarker disease BEFREE Further studies are needed to confirm our results and to define the mechanism by which ATXN1 might contribute to neuronal degeneration leading to ALS. 29274668 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS. 23197749 2012