ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.120 GeneticVariation disease BEFREE Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile-onset forms of HCM and mitochondrial respiratory chain dysfunction. 31045291 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.120 GeneticVariation disease BEFREE ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.120 Biomarker disease HPO