Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker BEFREE This work expands the phenotypic spectrum of AARS2-associated disease to include ataxia without leukoencephalopathy. 31705293

2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation BEFREE The 6 patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. 24808023

2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 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
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker HPO