RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
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 Biomarker disease BEFREE RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. 31814314 2020
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 GeneticVariation disease BEFREE Mutations in POLR3A and RARS were first identified in Chinese patients with Pol III-related leukodystrophy and hypomyelinating leukodystrophy, respectively. 29451896 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.120 Biomarker disease HPO