DARS1, aspartyl-tRNA synthetase 1, 1615

N. diseases: 40; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.130 Biomarker group BEFREE DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. 25527264 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.130 GeneticVariation group BEFREE Here, we investigate six mutants of the aspartyl-tRNA synthetase correlated with leukoencephalopathies. 26620921 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.130 GeneticVariation group BEFREE Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. 21121901 2011
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.130 Biomarker group HPO