Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation 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