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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
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
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 GeneticVariation phenotype 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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880 2017
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		0.100 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		0.100 Biomarker phenotype HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		0.100 Biomarker phenotype HPO
CUI: C1836038
Disease: Poor head control
Poor head control 		0.100 Biomarker phenotype HPO