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: 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
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.410 GeneticVariation disease BEFREE Variants in RARS1 impair ArgRS activity and do not only lead to a classic hypomyelination presentation with nystagmus and spasticity, but to a wide spectrum, ranging from severe, early-onset epileptic encephalopathy with brain atrophy to mild disease with relatively preserved myelination. 31814314 2020
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.410 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.400 Biomarker phenotype HPO
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.400 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.310 GeneticVariation disease BEFREE Variants in RARS1 impair ArgRS activity and do not only lead to a classic hypomyelination presentation with nystagmus and spasticity, but to a wide spectrum, ranging from severe, early-onset epileptic encephalopathy with brain atrophy to mild disease with relatively preserved myelination. 31814314 2020
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014