APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Disease: Cholesteryl Ester Transfer Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 AlteredExpression disease BEFREE The transcript levels for six HDL-metabolizing genes (LDLR, LCAT, ABCA1, SCARB1, ZDHHC8, and BMP1) were decreased, while the transcript level of APOA1 gene was increased in mononuclear cells of subjects with hyperalphalipoproteinemia as compared with subjects with hypoalphalipoproteinemia. 30430582 2018
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 AlteredExpression disease BEFREE Human CETP deficiency is associated with dramatic elevations of HDL cholesterol and apolipoprotein A-I levels, while PLTP variants with increased expression are associated with higher HDL levels. 19023137 2009
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 AlteredExpression disease BEFREE Elevated hepatic apolipoprotein A-I transcription is associated with diet-induced hyperalphalipoproteinemia in rabbits. 10809165 2000
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 Biomarker disease BEFREE Hyperalphalipoproteinemia in human lecithin cholesterol acyltransferase transgenic rabbits. In vivo apolipoprotein A-I catabolism is delayed in a gene dose-dependent manner. 8621767 1996
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 GeneticVariation disease BEFREE Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia. 1505654 1992
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 GeneticVariation disease BEFREE Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia. 1980685 1990
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.070 AlteredExpression disease BEFREE Family members homozygous for CETP deficiency (n = 10) had moderate hypercholesterolemia (mean total cholesterol level [+/- SD], 7.01 +/- 0.83 mmol per liter), markedly increased levels of HDL cholesterol (4.24 +/- 1.01 mmol per liter) and apolipoprotein A-I, and decreased levels of low-density lipoprotein cholesterol (1.99 +/- 0.80 mmol per liter) and apolipoprotein B. 2215607 1990