Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE The new option of proprotein convertase subtilisin/kexin type 9 gene inhibitors in addition to other current optimal lipid-lowering strategies might help to further improve clinical outcome in patients with probable/definite FH. 30344049 2020
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9. 31809983 2020
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE Ezetimibe and PCSK9 inhibitors should also be used in order to better treat LDL-C in FH patients. 31669498 2020
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE PCSK9 is the last member of the proprotein convertases (PCs) family and its gene is mutated in ~ 2% to 3% of individuals with familial hypercholesterolemia (FH). 31386798 2020
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE In a span of approximately 15 years, PCSK9 has morphed from an esoteric and rare cause of familial hypercholesterolemia (FH) into the most efficient cholesterol-lowering target ever known, with the completion of two large scale cardiovascular outcome trials showing positive results. 31151804 2020
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE The current scope of PCSK9 inhibitor therapy in preventive cardiology is limited to patients with familial hypercholesterolemia and/or established atherosclerotic cardiovascular disease. 31246589 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Pathogenic variants in the LDLR and PCSK9 genes were found in 46% (n = 296) and 7.8% (n = 51) of unrelated FH patients (n = 650), respectively. 31491741 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE Since launching a new class of lipid-lowering agents, proprotein convertase subtilisin/kexin type 9 (PCSK9) antibody and microsome triglyceride transfer protein inhibitors, the indication for lipoprotein apheresis in FH has been changing. 31231083 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE Economic evaluation of lipid lowering with PCSK9 inhibitors in patients with familial hypercholesterolemia: Methodological aspects. 31280039 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes. 30681615 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed. 30293936 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Motivated by the FH mutation data on PCSK9, we found that modeling the PCSK9/LDLR interface revealed extensive electron delocalization between and within the protein partners. 31805108 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE Evolocumab, a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9, is safe and effective in reducing low-density lipoprotein cholesterol in adults with familial hypercholesterolemia. 30318065 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 AlteredExpression disease BEFREE However, no data is available on the association between PCSK9 levels and MACEs in FH patients with standard lipid lowering therapy. 31711505 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE We demonstrated that p.(Arg499His) PCSK9 variant causes a direct intracellular degradation of LDLr therefore causing FH by reducing LDLr availability. 31518966 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to 80% of patients with clinically-diagnosed familial hypercholesterolemia (FH). 31345425 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 AlteredExpression disease BEFREE The PCSK9 levels were elevated in FH (P < .001). 29102496 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE The monogenic cause of FH includes apolipoprotein B (APOB), low-density lipoprotein receptor (LDLR), and proprotein convertase subtilisin/kexin 9 (PCSK9). 30949068 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE The incidence rates of low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) mutations were 82% and 9%, and proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations were rare in Chinese patients with FH. 30876527 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE A total of 249 patients with molecularly and/or clinically (Dutch Lipid Clinic Network score > 6) defined familial hypercholesterolemia who had experienced a first cardiovascular event were consecutively included and plasma proprotein convertase subtilisin/kexin type 9 concentrations were measured by enzyme-linked immunosorbent assay. 31604401 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Methods Out of 196 patients with clinically suspected FH (LDL-cholesterol [LDL-C] levels above 3.37 mmol/L, cholesterol level above 6.46 mmol/L in a first-degree relative or the presence of premature cardiovascular acute disease in a first/second-degree relative), we screened 164 index cases for mutations in the LDLR, APOB and PCSK9 genes. 30710474 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Pharmacokinetic and pharmacodynamic assessment of alirocumab in patients with familial hypercholesterolemia associated with proprotein convertase subtilisin/kexin type 9 gain-of-function or apolipoprotein B loss-of-function mutations. 31767518 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE Directly compare the efficacy of PCSK9 inhibition as compared to placebo on hard cardiovascular outcomes in FH patients enrolled in the Studies of PCSK9 Inhibition and the Reduction of vascular Events (SPIRE) program. 29685591 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia. 31238171 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE The distributions of PCSK9 and Lp(a) were skewed and a close correlation between them in HeFH patients was found. 30170223 2018