Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypertrophic obstructive cardiomyopathy
0.020 Biomarker disease BEFREE Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism. 30916346 2019
Hypertrophic obstructive cardiomyopathy
0.020 GeneticVariation disease BEFREE Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004 2014