LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.100 AlteredExpression disease BEFREE Chronic lymphocytic leukemia (CLL) cells with aggressive clinical properties express lipoprotein lipase (LPL), which generates activating ligands for the nuclear receptor peroxisome proliferator activated receptor (PPAR)α and allows fatty acids to be used as fuel. 23160450 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 AlteredExpression group BEFREE Hypertension is associated with increased expression of FABP3, FAS, FN1, IL1R2, LPL, SERPINE1, TGFB1, and VCAM1 and decreased expression of SELPLG and SERPINEB2. 23337395 2014
CUI: C1274228
Disease: Chylomicronemia syndrome
Chylomicronemia syndrome 		0.040 GeneticVariation disease BEFREE Chylomicronemia syndrome presenting in childhood is a rare recessive disorder due to mutations of lipoprotein lipase (LPL) and more rarely of APOC2, APOA5, GPIHBP1 or LMF1 genes. 23357145 2013
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation disease BEFREE Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. 23761384 2013
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 AlteredExpression disease BEFREE Familial chylomicronemia is a recessive disorder that may be due to mutations in lipoprotein lipase (LPL) and in other proteins such as apolipoprotein C-II and apolipoprotein A-V (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface), and LMF1 (a factor required for intracellular formation of active LPL). 27578123 2017
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation disease BEFREE Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. 28927429 2017
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 Biomarker disease BEFREE Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. 29784572 2019
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 Biomarker disease BEFREE Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder caused by mutations in lipoprotein lipase (LPL) or genes required for LPL functionality and is characterized by hyperchylomicronemia that results in recurrent episodes of acute pancreatitis. 30318066 2019
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation disease BEFREE Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene. 7897314 1994
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.100 GeneticVariation disease BEFREE Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase. 8301230 1993
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		0.100 GeneticVariation disease BEFREE Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase. 8301230 1993
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		0.800 Biomarker disease BEFREE Familial combined hyperlipidaemia (FCH) is not a single entity with a clearly defined cause but can occur through an increased fatty acid flux from adipose cells, lipoprotein lipase dysfunction or apolipoprotein CIII abnormalities. 9717061 1998
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.400 AlteredExpression disease BEFREE Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins. 10191298 1999
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 AlteredExpression disease BEFREE Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins. 10191298 1999
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.100 AlteredExpression disease BEFREE Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins. 10191298 1999
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.100 GeneticVariation disease BEFREE Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atherosclerosis, response to therapy, and future clinical events. Lipoproteins and Coronary Atherosclerosis Study. 10407505 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 Biomarker disease BEFREE LPL might affect hippocampal function and thus dementia via its role as supplier of membrane components or antioxidants to neurons. 10936883 2000
CUI: C0497327
Disease: Dementia
Dementia 		0.010 Biomarker disease BEFREE LPL might affect hippocampal function and thus dementia via its role as supplier of membrane components or antioxidants to neurons. 10936883 2000
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 GeneticVariation disease BEFREE Lipoprotein lipase gene polymorphism, cholesterol subfractions and myocardial infarction in large samples of the general population. 10974229 2000
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.070 GeneticVariation group BEFREE Lipoprotein lipase genetic variation and gender-specific ischemic cerebrovascular disease risk. 11127970 2000
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids. 11427211 2001
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.100 GeneticVariation disease BEFREE Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids. 11427211 2001
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.600 GeneticVariation phenotype BEFREE Lipoprotein lipase gene polymorphism and lipid profile in patients with hypertriglyceridemia. 11593500 2001
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.060 AlteredExpression phenotype BEFREE Lipoprotein lipase and fatty acid-binding protein-2 mRNA levels were 73 and 52% lower in GDM compared with Preg-Con subjects (P < 0.002). 11832353 2002
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.600 GeneticVariation phenotype BEFREE Lipoprotein lipase gene variants have been found to correlate with lipid/lipoprotein concentrations, especially hypertriglyceridaemia. 12107736 2002