ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.020 GeneticVariation disease BEFREE Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. 31045291 2019
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.020 GeneticVariation disease BEFREE ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013