Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.360 | GeneticVariation | disease | BEFREE | Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia. | 26466344 | 2016 | ||||
|
0.360 | Biomarker | disease | CTD_human | Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. | 12477733 | 2003 | ||||
|
0.360 | AlteredExpression | disease | BEFREE | Control subjects exhibited coordinate regulation of the LDL-R and HMG CoA reductase genes in response to lovastatin, 0.1-25 microM, for 0-24 h. Correlation coefficients between mRNA levels of both genes were > 0.9 in controls and FH subjects. | 8800498 | 1996 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | We have studied the effect of lovastatin, an inhibitor of the rate-limiting enzyme in cholesterol biosynthesis (3-hydroxy-3-methylglutaryl coenzyme A reductase), alone and in combination with the bile acid sequestrant cholestyramine on lipid parameters in 30 heterozygous patients with familial hypercholesterolemia (FH) during a 20-week open trial. | 3056429 | 1988 | ||||
|
0.360 | AlteredExpression | disease | BEFREE | We studied the effects of the bile acid sequestrant cholestyramine, alone and in combination with the experimental agent compactin (ML-236B), a competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, on serum levels of lipoproteins in 10 heterozygous patients with familial hypercholesterolemia. | 6828091 | 1983 | ||||
|
0.360 | AlteredExpression | disease | BEFREE | Regulation of 3-hydroxy-3-methylglutaryl coenzyme-A reductase activity in type II hyperlipoproteinaemia. | 172188 | 1975 | ||||
|
0.360 | Biomarker | disease | BEFREE | Control of sterol synthesis and of hydroxymethylglutaryl CoA reductase in skin fibroblasts grown from patients with homozygous type II hyperlipoproteinemia. | 236350 | 1975 |