AARS1, alanyl-tRNA synthetase 1, 16

N. diseases: 84; N. variants: 11
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE We report that the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs. 16906134 2006
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO