DARS1, aspartyl-tRNA synthetase 1, 1615

N. diseases: 40; N. variants: 19
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 GeneticVariation disease BEFREE Missense mutations of the gene encoding DARS result in the leukodystrophy hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) with a distinct pattern of hypomyelination, motor abnormalities, and cognitive impairment. 29615866 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 Biomarker disease BEFREE In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. 27816769 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 GeneticVariation disease CLINVAR