ARCN1, archain 1, 372

N. diseases: 39; N. variants: 4
Disease: Ataxia, Truncal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.300 Biomarker phenotype CTD_human Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration. 20502676 2010