ACTR1A, actin related protein 1A, 10121

N. diseases: 12; N. variants: 9
Disease: Spinocerebellar Ataxia Type 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.010 GeneticVariation disease BEFREE Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 20603325 2010