Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
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
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
0.120 GeneticVariation disease BEFREE ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
0.120 Biomarker disease HPO