Source: UNIPROT

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 Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia. 27578112

2017
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation UNIPROT In conclusion, we have identified a novel loss of function mutation in the LPL gene (Cys(239)-->Trp) of a patient with type I hyperlipoproteinemia suffering from severe recurrent pancreatitis. 11134145

2000
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation UNIPROT Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. 9298816

1997
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 Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. 9714430

1998