RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014