Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241. 1371284

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 1400331

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. 1479292

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity. 1521525

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. 1598907

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. 1619366

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT We have previously reported two common lipoprotein lipase (LPL) gene mutations underlying LPL deficiency in the majority of 37 French Canadians (Monsalve et al., 1990.J. Clin.Invest.86: 728-734; Ma et al., 1991.N. Engl.J. Med.324: 1761-1766). 1639392

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 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

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. 1702428

1991

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis. 1730727

1992

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. 1752947

1991

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT 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

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Cloning and sequencing of lipoprotein lipase (LPL) cDNA prepared from the adipose tissue of a patient with classical LPL deficiency revealed a G to A transition at nucleotide 818 in all sequenced clones, leading to the substitution of glutamic acid for glycine at residue 188 of the mature protein. 1969408

1990

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT We show that an identical missense mutation within exon 5, resulting in an amino acid substitution of glutamic acid for glycine at position 188, is responsible for LPL deficiency in 21 of 88 LPL alleles assessed. 1975597

1990

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene. 2010533

1991

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of lipoprotein lipase deficiency. 2038366

1991

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity. 2110364

1990

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene. 2121025

1990

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 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

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicronemia. 7906986

1994

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression. 7912254

1994

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion. 7999071

1994

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT The molecular characterization of the LPL gene in these three patients with partial LPL deficiency revealed four novel unpublished mutations. 8077845

1994

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. 8096693

1993

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 8135797

1994