Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cholesteryl Ester Transfer Protein Deficiency
0.320 GeneticVariation disease BEFREE Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
Cholesteryl Ester Transfer Protein Deficiency
0.320 GermlineCausalMutation disease ORPHANET Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
Cholesteryl Ester Transfer Protein Deficiency
0.320 GeneticVariation disease BEFREE We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals with hyperalphalipoproteinemia. 23701270 2014