Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
0.020 GeneticVariation disease BEFREE The only three previously reported families with defects in ELAC2 gene exhibited infantile hypertrophic cardiomyopathy and complex I deficiency. 27769300 2016
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
0.020 GeneticVariation disease BEFREE We report the identification of mutations in ELAC2 in five individuals with infantile hypertrophic cardiomyopathy and complex I deficiency. 23849775 2013