Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.120 Biomarker phenotype BEFREE Previous studies have demonstrated that mutations in lipoprotein lipase (LPL), apolipoprotein CII (APOC2), apolipoprotein AV (APOA5), glycosylphosphatidylinositol anchored high-density lipoprotein-binding protein 1 (GPIHBP1), lipase maturation factor 1(LMF1), and glycerol-3 phosphate dehydrogenase 1 (GPD1) are responsible for HTG by using genomic microarrays and next-generation sequencing. 29910226 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.120 GeneticVariation phenotype BEFREE We performed candidate gene sequencing and screened both clinically affected individuals (children and adults with hypertriglyceridemia) and also a healthy cohort for mutations in GPD1, which encodes glycerol-3-phosphate dehydrogenase 1. 22226083 2012
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.120 Biomarker phenotype HPO