LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hyperlipoproteinemia Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. 27055971 2016
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 27573733 2016
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia. 25966443 2015
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR We studied 3 subjects with familial LPL deficiency; 14 subjects heterozygous for the LPL gene mutations Gly188Glu, Trp64Stop, and Ile194Thr; and 10 control subjects. 22095987 2012
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). 17717288 2007
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations. 16972177 2006
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 15877202 2005
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 15877202 2005
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis. 12641539 2003
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. 12204001 2002
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia. 11099402 2000
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. 11068186 2000
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23. 10787434 2000
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Assessment of French patients with LPL deficiency for French Canadian mutations. 9279761 1997
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia. 8956052 1996
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. 8778602 1996
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia. 8956048 1996
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 8135797 1994
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 7906986 1994
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia. 7806969 1994
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). 8288243 1993
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 8325986 1993
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR The molecular defects in lipoprotein lipase deficient patients. 1505655 1992
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 1400331 1992