Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE PCSK9 mutant proteins associated with hypercholesterolemia (S127R and D374Y) are more potent in decreasing LDL uptake than is wild-type PCSK9. 18354137 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are associated with a reduction of LDL-C values and a decreased risk of coronary heart disease. 18708425 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia. 25248569 2014
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE PCSK9 inhibitors: Novel therapeutic agents for the treatment of hypercholesterolemia. 25989132 2015
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE PCSK9 Inhibition With Monoclonal Antibodies: Modern Management of Hypercholesterolemia. 27195910 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Proprotein convertase subtilisin/kexin type 9 (PCSK9) has emerged as a promising therapeutic target for the treatment of hypercholesterolaemia and atherosclerosis. 28637178 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors have emerged as the add-on therapy on top of statins and/or ezetimibe for the treatment of hypercholesterolemia and ASCVD prevention. 28879791 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitor use in the management of resistant hypercholesterolemia induced by mitotane treatment for adrenocortical cancer. 29650402 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE PCSK9, through promoting lysosomal degradation of hepatic low-density lipoprotein (LDL) receptor, can decrease the clearance of plasma LDLs, leading to hypercholesterolaemia and consequent atherosclerotic plaque formation. 31236571 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE PCSK9 regulates LDL receptor degradation and plays key roles in hypercholesterolemia and related cardiovascular diseases. 31593224 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 AlteredExpression disease BEFREE A higher activity of PCSK9 leads to lower liver LDLR levels, resulting in a reduction in LDL-uptake from circulation, and thus in hypercholesterolemia and associated atherosclerosis. 23317404 2013
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease LHGDN A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. 14727179 2004
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE A promising approach to treat hypercholesterolemia is inactivating the secreted protein PCSK9, an antagonist of the LDL receptor. 29985478 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 AlteredExpression disease BEFREE Activation of PCSK9 can thus decrease the expression of LDLR in the liver and inhibit LDL uptake, which leads to hypercholesterolaemia. 28549755 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE Additionally, in the entire study group (n=401), PCSK9 R496W and D374Y mutation carriers had increased total cholesterol (p=0.021), triglycerides (p=0.0001), HDL cholesterol (p=0.028), and low-density lipoproteins (LDL) cholesterol (p=0.028) levels. 29724976 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE All known mutations in PCSK9 causing hypercholesterolemia produce an increase in the enzymatic activity of this protease. 18559913 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Although not preferred over statins because of limited clinical trial evidence of cardiovascular event reductions, dosing convenience, and expense, PCSK9 monoclonal antibodies will have a prominent role to play in the treatment of hypercholesterolemia, especially in patients needing large LDL reductions, including patients with many types of FH. 26424774 2015
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Anti-PCSK9 agents have been approved for the treatment of hypercholesterolemia. 31227343 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease LHGDN By comparing the number of patients with gain-of-function mutations in PCSK9 with the number of familial hypercholesterolemia heterozygotes among subjects with hypercholesterolemia, the prevalence of subjects with gain-of-function mutations in PCSK9 in Norway can be estimated to one in 15,000. 18266662 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 GeneticVariation disease BEFREE By comparing the number of patients with gain-of-function mutations in PCSK9 with the number of familial hypercholesterolemia heterozygotes among subjects with hypercholesterolemia, the prevalence of subjects with gain-of-function mutations in PCSK9 in Norway can be estimated to one in 15,000. 18266662 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Circulating PCSK9 causes hypercholesterolemia by reducing LDL receptors in hepatocytes. 29451410 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Comparative quantitative systems pharmacology modeling of anti-PCSK9 therapeutic modalities in hypercholesterolemia. 31292220 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Compared with wild type, PCSK9-GOF pigs had elevated cholesterol, triglyceride, and blood pressure levels at 3 and 6 months. 29175268 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.700 Biomarker disease BEFREE Consequently, the role of PCSK9 in modulating circulating LDL makes it a promising therapeutic target for treating hypercholesterolemia and coronary heart disease. 20172854 2010