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Genes (15)
Species:
human : 15 | |
| Human | PCSK9 | 255738 | proprotein convertase subtilisin/kexin type 9 | Mutations in the PCSK9 gene are associated with variable phenotype of autosomal dominant hypercholesterolemia two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause autosomal dominant hypercholesterolemia A new mutation that could cause autosomal dominant hypercholesterolemia by increasing the transcription of PCSK9 Rare missense mutations of PCSK9 may worsen the clinical phenotype of familial hypercholesterolemia patients carrying LDLR mutations mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia | | Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | low plasma adiponectin is associated with an increased risk of premature Coronary artery disease over and above the already exaggerated risk seen in Familial Hypercholesterolemia patients | | Human | PON1 | 5444 | paraoxonase 1 | study of 187 patients with familial hypercholesterolemia shows genetic variation at the PON1 locus has a strong influence on PON1 activity as well as on carotid intima media thickness | | Human | NPPA | 4878 | natriuretic peptide A | The 664A allele of the Atrial Natriuretic Peptide(ANP) polymorphism is associated with lower levels of ApoA1 and HDL-C in Familial Hypercholesterolemia patients, but not with Coronary Artery Disease risk | | Human | MTTP | 4547 | microsomal triglyceride transfer protein | the MTP -493 GT polymorphism modulates pre- and post-treatment plasma triglyceride values of familial hypercholesterolaemia in Spanish subjects in a gender-specific way | | Human | MPO | 4353 | myeloperoxidase | In familial hypercholesterolemia there was no correlation between plasma myeloperoxidase levels and atherosclerosis progression | | Human | MEF2A | 4205 | myocyte enhancer factor 2A | No history of familial hypercholesterolemia | | Human | LDLR | 3949 | low density lipoprotein receptor | Click here to display 27 evidence detail records. | | Human | EGFR | 1956 | epidermal growth factor receptor | misfolding of the LDLR epidermal growth factor-AB pair results from low density lipoprotein receptor familial hypercholesterolemia mutations | | Human | CETP | 1071 | cholesteryl ester transfer protein, plasma | The CETP polymorphism is a significant predictor of future cardiovascular disease events in statin-treated patients with familial hypercholesterolemia the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus may affect postprandial plasma lipoprotein levels in heterozygotes for familial hypercholesterolemia | | Human | APOE | 348 | apolipoprotein E | Title:Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia.|Association:Y|Conclusion:Not Found | | Human | APOB | 338 | apolipoprotein B | results suggest that apolipoprotein B levels in familial hypercholesterolemia heterozygotes may be affected by several different genetic variants results reveal a characteristic mutation pattern of autosomal dominant hypercholesterolemia in Taiwan, mainly in the LDLR and APOB genes elevation of plasma LDL-cholesterol found in familial hypercholesterolemia is attributable to both decreased clearance of LDL and increased hepatic production of apoB-100-containing lipoproteins examined frequency of familial defective apo-B-100 (FDB, R3500Q mutation) in probands with the phenotype of familial hypercholesterolemia (FH) and in the general population of 40-year-old subjects in Slovakia Finds familial defective apoB (FDB) not a common cause of autosomal dominant monogenic hypercholesterolemia in Spain; R3500Q mutation is the only mutation in APOB causing FDB, and LDL receptor binding domain of APOB is highly conserved in studied sample No APOB defects were found in autosomal dominant hypercholesterolemia | | Human | APOA1 | 335 | apolipoprotein A-I | In an LDL receptor-deficient mouse model of familial hypercholesterolemia, helper-dependent adenovirus gene transfer of human apoA-I causes long-term overexpression of apoA-I and retards atherosclerosis progression | | Human | AGT | 183 | angiotensinogen (serpin peptidase inhibitor, clade A, member 8) | genetic variation in the angiotensinogen gene contributes to coronary heart disease risk in patients with familial hypercholesterolemia | | Human | ABCA1 | 19 | ATP-binding cassette, sub-family A (ABC1), member 1 | Title:A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.|Association:Y|Conclusion:The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in ABCA1 could influence the development and progression of atherosclerosis in FH subjects. Moreover, the K allele of the R219K polymorphism seems to modify CHD risk without important modification of plasma HDL-C levels, and it appears to be more protective for smokers than non-smokers. |
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