RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 CausalMutation disease CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880 2017
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 Biomarker disease GENOMICS_ENGLAND Update on Leukodystrophies: A Historical Perspective and Adapted Definition. 27564080 2016
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 CausalMutation disease CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 GermlineCausalMutation disease ORPHANET Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 GeneticVariation disease CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 GeneticVariation disease UNIPROT Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.700 Biomarker disease CTD_human