AARS1, alanyl-tRNA synthetase 1, 16

N. diseases: 84; N. variants: 11
Disease: Muscle Spasticity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 GeneticVariation phenotype BEFREE Here, we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy, and spasticity. 28493438 2017
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO