Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 Biomarker BEFREE Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. 30285085

2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation BEFREE Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). 28820624

2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation BEFREE Distinguishing clinical features included deafness and renal involvement associated with RMND1 and cardiomyopathy with AARS2 and MTO1. 25058219

2014