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: C1969232
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11 		0.100 GeneticVariation phenotype CLINVAR
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		0.100 GeneticVariation phenotype CLINVAR
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		0.100 Biomarker phenotype HPO
CUI: C4016424
Disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO
HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C4017648
Disease: LPL-ARITA PHENOTYPE
LPL-ARITA PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C4017649
Disease: LIPOPROTEIN LIPASE (OLBIA) PHENOTYPE
LIPOPROTEIN LIPASE (OLBIA) PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021729
Disease: Increased VLDL cholesterol concentration
Increased VLDL cholesterol concentration 		0.100 Biomarker phenotype HPO
CUI: C4703544
Disease: Elevated apolipoprotein B level
Elevated apolipoprotein B level 		0.100 Biomarker phenotype HPO
CUI: C4703546
Disease: Elevated apolipoprotein A-II level
Elevated apolipoprotein A-II level 		0.100 Biomarker phenotype HPO
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 Biomarker disease BEFREE 181 genes were significantly up- or down-regulated with increasing BMI in endometrioid EC (q-value<0.01), including LPL, IRS-1, IGFBP4, IGFBP7 and the progesterone receptor. 27288544 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 Biomarker disease BEFREE 181 genes were significantly up- or down-regulated with increasing BMI in endometrioid EC (q-value<0.01), including LPL, IRS-1, IGFBP4, IGFBP7 and the progesterone receptor. 27288544 2016
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.400 GeneticVariation group BEFREE Dyslipidemia was more pronounced in D9N carriers with higher body mass index. 10559015 1999
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 AlteredExpression disease BEFREE Type I hyperlipoproteinemia (type I HLP) is a rare disorder of lipid metabolism characterized by fasting chylomicronemia and reduced postheparin plasma lipoprotein lipase (LPL) activity. 10576767 1999
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation disease UNIPROT Familial chylomicronemia is an autosomal recessive disease characterised by fasting triglyceridemia and an absence of lipoprotein lipase (LpL) activity in post-heparin plasma. 10660334 1998
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 AlteredExpression disease BEFREE Familial chylomicronemia is an autosomal recessive disease characterised by fasting triglyceridemia and an absence of lipoprotein lipase (LpL) activity in post-heparin plasma. 10660334 1998
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.600 GeneticVariation phenotype BEFREE Hypertriglyceridemia characterized by low-density lipoprotein phenotype and lipoprotein lipase gene mutation. 11205691 2000
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		0.800 GeneticVariation disease BEFREE FCHL individuals carrying the LPL N291S gene showed higher plasma lipids and apolipoprotein B (apoB) levels compared with affected noncarriers. 12370850 2002
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		0.800 AlteredExpression disease LHGDN FCHL individuals carrying the LPL N291S gene showed higher plasma lipids and apolipoprotein B (apoB) levels compared with affected noncarriers. 12370850 2002
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 AlteredExpression disease BEFREE Familial hyperchylomicronemia due to the lipoprotein lipase (LPL) activity deficiency (Type I hyperlipoproteinemia) is an autosomal recessive disorder with a prevalence estimated at one case per million. 1524414 1992
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.600 GeneticVariation phenotype BEFREE Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. 1619390 1992
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 Biomarker disease BEFREE Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. 17542893 2007
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.700 GeneticVariation disease BEFREE Hyperlipidemia was positively correlated with age, BMI, alcohol consumption, total energy and total fat intake, apoE, and microsomal triglyceride transfer protein genotypes, and negatively associated with total dietary fiber intake, apoA-I, and lipoprotein lipase genotypes. 19155782 2009
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation disease BEFREE Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. 2010533 1991
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
Malignant lymphoma - lymphoplasmacytic 		0.080 GeneticVariation disease BEFREE Lymphoplasmacytic lymphoma/Waldenström's macroglobulinemia (LPL/WM) can be difficult to distinguish from primary plasma cell neoplasms in bone marrow biopsies. 21454202 2011
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation disease BEFREE Hyperlipoproteinemia type I in a patient with active lipoprotein lipase in adipose tissue and indications of defective transport of the enzyme. 2205700 1990