Disease: Infantile cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy 		0.030 GeneticVariation disease BEFREE To date, all described patients with AARS2-related fatal infantile cardiomyopathy are united by either a homozygous or compound heterozygous c.1774C>T (p.Arg592Trp) missense founder mutation that is absent in patients with other AARS2-related phenotypes. 30285085 2019
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy 		0.030 GeneticVariation disease BEFREE Mutations in AARS2 have been found in a severe form of infantile cardiomyopathy in 2 families. 24808023 2014
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy 		0.030 GeneticVariation disease BEFREE We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. 21549344 2011