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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 15877202 2005
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis. 12641539 2003
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. 12204001 2002
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. 11068186 2000
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Assessment of French patients with LPL deficiency for French Canadian mutations. 9279761 1997
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia. 8956052 1996
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. 8778602 1996
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 8135797 1994
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 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: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 1400331 1992
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. 1598907 1992
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation BEFREE The mutant LPLs, Asp156----Gly and Asp156----Gly/Ser447----Ter, were devoid of enzyme activity, indicating that the Asp156----Gly mutation is the underlying defect for the LPL deficiency in the two patients. 1907278 1991
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. 1674945 1991
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. 2010533 1991
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.810 GeneticVariation UNIPROT Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency. 1969408 1990
dbSNP: rs118204064
rs118204064
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		G 0.810 CausalMutation CLINVAR