AARS1, alanyl-tRNA synthetase 1, 16

N. diseases: 84; N. variants: 11
Disease: Cardiac fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		0.010 Biomarker disease BEFREE Severe disruption of the editing activity of AlaRS caused embryonic lethality, whereas an intermediate reduction in AlaRS editing efficacy resulted in ubiquitinated protein aggregates and mitochondrial defects in cardiomyocytes that were accompanied by progressive cardiac fibrosis and dysfunction. 25422440 2014