|
Abnormal internal carotid artery morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Premature coronary artery atherosclerosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Precocious atherosclerosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Renal steatosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of nervous system physiology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal eye physiology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cerebral artery atherosclerosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Myocardial steatosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cardiovascular Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
<i>Gold standard</i> therapy with statins and the more recently developed <i>proprotein convertase subtilisin/kexin type 9</i> (PCSK9) inhibitors have improved health conditions among CVD patients by lowering <i>low density lipoprotein</i> (LDL) cholesterol.
|
31191301 |
2019 |
|
LDLR mutation
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
(LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LDL-C 8.07 mmol/L) and a PCSK9 mutation (p.R496W) from her mother (LDL-C 5.58 mmol/L).Proband L.R. and her sister (LDL-C 11.51 and 10.47 mmol/L, xanthomatosis and carotid atherosclerosis) were heterozygous for an LDLR mutation (p.Y419X) inherited from their mother (LDL-C 6.54 mmol/L) and a PCSK9 mutation (p.N425S) probably from their deceased father.
|
16183066 |
2006 |
|
Carotid Atherosclerosis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
(LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LDL-C 8.07 mmol/L) and a PCSK9 mutation (p.R496W) from her mother (LDL-C 5.58 mmol/L).Proband L.R. and her sister (LDL-C 11.51 and 10.47 mmol/L, xanthomatosis and carotid atherosclerosis) were heterozygous for an LDLR mutation (p.Y419X) inherited from their mother (LDL-C 6.54 mmol/L) and a PCSK9 mutation (p.N425S) probably from their deceased father.
|
16183066 |
2006 |
|
Xanthomatosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
(LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LDL-C 8.07 mmol/L) and a PCSK9 mutation (p.R496W) from her mother (LDL-C 5.58 mmol/L).Proband L.R. and her sister (LDL-C 11.51 and 10.47 mmol/L, xanthomatosis and carotid atherosclerosis) were heterozygous for an LDLR mutation (p.Y419X) inherited from their mother (LDL-C 6.54 mmol/L) and a PCSK9 mutation (p.N425S) probably from their deceased father.
|
16183066 |
2006 |
|
Arteriosclerosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
189 patients with severe carotid artery atherosclerosis undergoing carotid endarterectomy (CEA) and whose clinical records and serum sample aliquots for PCSK9 level measurement were available both directly before CEA and at 24-month follow-up were included in the present pilot study.
|
29754909 |
2018 |
|
Atherosclerosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
189 patients with severe carotid artery atherosclerosis undergoing carotid endarterectomy (CEA) and whose clinical records and serum sample aliquots for PCSK9 level measurement were available both directly before CEA and at 24-month follow-up were included in the present pilot study.
|
29754909 |
2018 |
|
Hypercholesterolemia, Familial
|
0.500 |
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 |
|
Hyperlipoproteinemia Type IIa
|
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 |
|
Hepatitis C
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
31-52) PCSK9 mutants for low-density lipoprotein receptor (LDLR) degradation had no effect on HCV replication, suggesting that HCV replication inhibition by PCSK9 was not due to LDLR degradation.
|
29235977 |
2018 |
|
Ischemic stroke
|
0.100 |
Biomarker
|
disease |
BEFREE |
324 patients with acute ischemic stroke and TIA were further screened for PCSK9-inhibitor treatment eligibility.
|
31732461 |
2020 |
|
Transient Ischemic Attack
|
0.010 |
Biomarker
|
disease |
BEFREE |
324 patients with acute ischemic stroke and TIA were further screened for PCSK9-inhibitor treatment eligibility.
|
31732461 |
2020 |
|
Diabetes Mellitus
|
0.100 |
GeneticVariation
|
group |
BEFREE |
350 patients (62 ± 11 years old, 58% men, 22% with diabetes mellitus) with different concomitant lipid lowering therapies, and in whom PCSK9-I treatment was indicated, received either evolocumab (140 mg) or alirocumab (75 or 150 mg).
|
30910670 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
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 |
|
Hypercholesterolemia, Familial
|
0.500 |
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 |
|
Hyperlipoproteinemia Type IIa
|
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 |
|
Hyperlipoproteinemia Type IIa
|
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 |