RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
Disease: Cerebral hypomyelination ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.400 Biomarker phenotype HPO