Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile cardiomyopathy
CUI: C1854776
Disease: Infantile cardiomyopathy
0.010 GeneticVariation 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