| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.190 | Biomarker | disease | BEFREE | An increase in hepatic triglyceride (TG) synthesis in subjects with familial hypertriglyceridemia (FHTG) is associated with secretion of large, TG-enriched, very low-density lipoproteins (VLDL), which have an increased affinity for lipoprotein lipase (LPL) in vivo as compared with VLDL from subjects with familial combined hyperlipidemia (FCHL) or from normal subjects. | 3812212 | 1987 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia. | 7868979 | 1994 | ||||
|
0.190 | AlteredExpression | disease | BEFREE | The LPL level was low in the children and both parents in kindred N. LPL level in kindred A was normal, except for one child with type IV hyperlipoproteinemia. | 191790 | 1977 | ||||
|
0.190 | Biomarker | disease | BEFREE | Heterozygous lipoprotein lipase (LPL) deficiency has been associated with familial hypertriglyceridemia and familial combined hyperlipidemia. | 8989135 | 1996 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | The purpose of this study was to develop an improved method of direct DNA sequencing, which makes it possible to identify heterozygous mutations of the lipoprotein lipase (LPL) gene in order to understand the underlying genetic disorder of type IV hyperlipoproteinemia. | 9209790 | 1997 | ||||
|
0.020 | AlteredExpression | disease | BEFREE | Commensurate with these mRNA levels, the mean ASBT protein level in the control group was 126.2 +/- 22.6 versus 58.8 +/- 13.8 in hypertriglyceridemics (P = 0.02) and 61.8 +/- 15.2 in the FHT patients (P = 0.05). | 10974045 | 2000 | ||||
|
0.020 | GeneticVariation | disease | BEFREE | These findings indicate that the decreased intestinal bile acid absorption in FHTG patients is not commonly associated with inherited defects in SLC10A2. | 11742882 | 2001 |