Gene: RARS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		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
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.410 Biomarker disease HPO