Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 GeneticVariation disease BEFREE Three novel CETP gene mutations are responsible for HALP by CETP deficiency. 22122993 2012
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 GeneticVariation disease BEFREE The data furthermore indicate that genetic CETP deficiency is rare among Caucasians and that this disorder presents with a phenotype that is different from that of subjects with HALP who have no mutation in the CETP gene. 17192423 2007
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 AlteredExpression disease BEFREE The consequences of chronic CETP deficiency in lipid-storing cells normally expressing CETP have not been reported. 17522050 2007
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 GeneticVariation disease BEFREE To investigate the contribution of CETP deficiency to the cause of HALP (HDL-C> or =1.94 mmol/l, 75 mg/dl), we investigated the CETP activities and the prevalence of genetic CETP mutations among 624 Japanese HALP subjects. 12482565 2003
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 Biomarker disease BEFREE The carriers of CETP deficiency had CETP and lipid abnormalities. 11940367 2002
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 GeneticVariation disease UNIPROT Cholesteryl ester transfer protein (CETP) deficiency is one of the most important and common causes of hyperalphalipoproteinemia (HALP) in the Japanese. 12091484 2002
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 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
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 Biomarker disease BEFREE Although the pathophysiological significance of CETP in terms of atherosclerosis has been controversial, the in vitro experiments showed that large CE-rich HDL particles in CETP deficiency are defective in cholesterol efflux. 11111094 2000
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 Biomarker disease BEFREE There was a considerable difference in the atherogenicity of human CETP deficiency and CETP-inhibited rabbits. 11086331 2000
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 GeneticVariation disease BEFREE In the current study, we have found a unique area (Omagari City, Akita Prefecture, Japan) where CETP deficiency caused by a G-to-A mutation at the 5' splice donor site of intron 14 in the CETP gene is extremely frequent. 9194754 1997
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 GeneticVariation disease BEFREE Among the Japanese population, a G-to-A mutation at the beginning of intron 14 of the human cholesteryl ester transfer protein (CETP) gene is a frequent cause of CETP deficiency characterized by markedly increased HDL cholesterol. 9261270 1997
CUI: C3149462
Disease: HYPERALPHALIPOPROTEINEMIA 1
HYPERALPHALIPOPROTEINEMIA 1
0.800 Biomarker disease BEFREE Thus, we examined the relationship between plasma CETP expression and plasma cholesteryl ester formation in CETP transgenic (Tg) mice, hamsters, and human subjects with genetic CETP deficiency. 9194753 1997