Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 CausalMutation disease CLINVAR
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 AlteredExpression disease BEFREE 3.03 ± 2.07 μg/mL; P < 0.0001).There were no correlations between apoB-48 and PCSK9 plasma levels in both controls (ρ = 0.06, P = 0.5) and HeFH subjects (ρ = 0.07, P = 0.4). 28619117 2017
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH) is an autosomal dominant inherited disease characterized by an increase in low-density lipoprotein cholesterol levels and premature coronary heart disease, which can be caused by mutations in genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). 17964958 2007
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. 18757057 2009
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal Dominant Hypercholesterolemia (ADH) is an autosomal dominant disease caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. 20144596 2010
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9). 20145306 2010
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is commonly caused by mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B, and proprotein convertase subtilisin/kexin type 9 genes. 20538126 2010
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9(proprotein convertase subtilisin-kexin type 9). 20809525 2010
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH), characterized by isolated elevation of plasmatic low-density lipoprotein (LDL) cholesterol and premature coronary heart disease (CHD), is associated with mutations in three major genes: LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin 9 (PCSK9). 22244043 2012
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. 22353362 2012
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH) is commonly caused by mutations in the low-density lipoprotein (LDL) receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB), or in the proprotein convertase subtilisin kexine 9 gene (PCSK9). 22417841 2012
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal Dominant Hypercholesterolemia (ADH) is due to defects in the LDL receptor gene (LDLR), the apolipoprotein B-100 gene (APOB) or the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). 22910581 2012
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low-density lipoproteins (LDLs). 22949395 2013
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes coding for the low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type-9 (PCSK9) or apo-lipoprotein B-100 (APOB). 23535506 2013
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the low density lipoprotein receptor (LDLR), its ligand apoB (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. 24267230 2013
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) can be due to mutations in LDLR, PCSK9, and APOB. 24420163 2014
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 AlteredExpression disease BEFREE Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9. 27919364 2017
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). 28104544 2017
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 Autosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR. 30308187 2018
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 PCSK9 is the third locus implicated in autosomal dominant hypercholesterolemia (Hchola3), and it appears to play an important role in cellular cholesterol metabolism. 15767856 2005
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE PCSK9 is the third gene to be implicated in autosomal dominant hypercholesterolemia. 16487721 2006
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE Proprotein convertase subtilisin/kexin type 9 (PCSK9) is associated with familial autosomal dominant hypercholesterolemia and is a natural inhibitor of the LDL receptor (LDLr). 18245819 2008
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
0.200 Biomarker disease BEFREE PCSK9 has been recently discovered as the third gene involved in autosomal dominant hypercholesterolemia. 21943799 2011