Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE The CETP inhibitor anacetrapib reproduced the phenotype of homozygous CETP deficiency and showed a highly significant benefit for CAD in the REVEAL trial. 30029099 2018
Cholesteryl Ester Transfer Protein Deficiency
0.400 AlteredExpression disease BEFREE Mutations in the CETP gene resulting in defective CETP activity have been shown to cause remarkable elevations of plasma HDL-C levels, with the accumulation in plasma of large, buoyant HDL particles enriched in apolipoprotein E. Genetic CETP deficiency thus represents a unique tool to evaluate how structural alterations of HDL impact on HDL atheroprotective functions. 24830642 2014
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE The recently-identified variants in the CETP promoter and in the LIPC gene may contribute to HALP. 23219720 2013
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE The presence of a HDL-like peak migrating between the ApoB-LDL and ApoA-I-HDL was identified in a Caucasian patient with homozygosity for a point mutation in exon 2 of the CETP gene (c.109 C > T) resulting in a premature termination codon (R37X) and complete CETP deficiency. 22339301 2012
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. 22464213 2012
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE It is predicted that there are more rare CETP gene mutations in Japanese, and these multiple rare mutations alone or a combination with each of prevalent mutations is responsible for mild-to-moderate or marked HALP, respectively. 22122993 2012
Cholesteryl Ester Transfer Protein Deficiency
0.400 AlteredExpression disease BEFREE Twenty-eight women, selected from a healthy population sample (n = 148) were classified according to three CETP levels, all statistically different: CETP deficiency (CETPd ≤ 4.5%, n = 8), high activity (CETPi ≥ 23.8, n = 6) and controls (CTL, CETP ≥ 4.6% and ≤ 23.7%, n = 14). 21609439 2011
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE Complete CETP deficiency caused by mutations in CETP gene is exceedingly rare in Caucasians; the description of this single case indicates that CETP deficiency does not predispose to atherosclerosis in the absence of major cardiovascular risk factors. 19200546 2009
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE The mean CETP and HL activities were significantly lower in the HALP group than in the control group (34 +/- 4 vs 44 +/- 3 pmol/[microL h], P = .04 and 150 +/- 17 vs 227 +/- 16 nmol free fatty acid/[mL min] P = .002, respectively). 19428034 2009
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency. 18926541 2009
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE Despite continued uncertainty regarding the cardiovascular implications of genetic CETP deficiency and pharmacologic CETP inhibition, there remain reasons to believe in the mechanism and the possibility that clean CETP inhibitors will not only improve plasma lipids but also reduce cardiovascular risk. 18929230 2008
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE Variations in the CETP gene may cause CETP deficiency, which is characterized by decreased mass and activity of the protein as well as altered HDL and LDL levels. 18680734 2008
Cholesteryl Ester Transfer Protein Deficiency
0.400 AlteredExpression disease BEFREE This study suggests the absence of a relationship between CETP and HDL-C levels in Caucasians with HALP. 17192423 2007
Cholesteryl Ester Transfer Protein Deficiency
0.400 AlteredExpression disease BEFREE The consequences of chronic CETP deficiency in lipid-storing cells normally expressing CETP have not been reported. 17522050 2007
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. 16855848 2006
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE In contrast, hyperalphalipoproteinemia as a result of loss of cholesteryl ester transfer protein function is associated with unaltered atherosclerosis progression compared with family controls. 15767853 2005
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE Controversy remains about whether CETP deficiency and the resultant rise in HDL-C are antiatherogenic, or whether CETP has the opposite effect due to its role in reverse cholesterol transport. 14967821 2004
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE Mutations in the CETP gene associated with CETP deficiency are characterized by high HDL-cholesterol levels (>60 mg/dL) and reduced cardiovascular risk. 14729390 2004
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE Epidemiological studies in Japanese-Americans living in Hawaii and Japanese in the Omagari area, where HALP subjects with an intron 14 splicing defect of the CETP gene are markedly frequent, have shown a relatively increased incidence of coronary atherosclerosis in CETP deficiency. 15256762 2004
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE At least one of the four mutations was identified in 65.7% of subjects with reduced CETP activities and 57.5% of subjects with marked HALP. 12482565 2003
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE By using the Invader assay for seven mutations, including two novel mutations of the CETP gene, we investigated their frequency among 466 unrelated subjects with HALP (HDL-C > or = 2.07 mmol/l = 80 mg/dl). 12091484 2002
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE The carriers of CETP deficiency had CETP and lipid abnormalities. 11940367 2002
Cholesteryl Ester Transfer Protein Deficiency
0.400 Biomarker disease BEFREE We reported the pathophysiological significance of CETP by clinical studies with genetic CETP deficiency, showing that this protein plays a crucial role in the RCT system. 11689208 2001
Cholesteryl Ester Transfer Protein Deficiency
0.400 GeneticVariation disease BEFREE In conclusion, a novel -69 G-->A mutation in the CETP gene causes the decreased transcriptional activity leading to HALP. 11397708 2001
Cholesteryl Ester Transfer Protein Deficiency
0.400 AlteredExpression disease BEFREE It does not seem directly due to the lack of CETP activity in plasma but to abnormal lipoprotein generated by chronic CETP deficiency. 11500037 2001