Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 16
Gene Symbol: AARS1
AARS1
0.110 GeneticVariation disease BEFREE Here, we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy, and spasticity. 28493438 2017
Entrez Id: 16
Gene Symbol: AARS1
AARS1
0.110 Biomarker disease HPO