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 Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--. 15256764

2004

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 15877202

2005

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT This study provides a conceptual framework for understanding intravascular lipolysis and GPIHBP1 and LPL mutations causing familial chylomicronemia. 26725083

2016

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 Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis. 30559189

2019