LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial hyperchylomicronemia syndrome
0.050 GeneticVariation disease BEFREE We identified two novel mutations in the LPL gene causing type 1 hyperlipoproteinemia: a two base pair deletion (c.765_766delAG) resulting in a frameshift at position 256 of the protein (p.G256TfsX26) and a nucleotide substitution (c.1211 T > G) resulting in a methionine to arginine substitution (p.M404 R). 27578112 2017
Familial hyperchylomicronemia syndrome
0.050 GeneticVariation disease BEFREE Mutations in the genes encoding lipoprotein lipase (LPL), apolipoprotein CII (APOC2), apolipoprotein AV (APOA5), lipase maturing factor 1 (LMF1) or glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) have been found to cause Type 1 hyperlipoproteinemia. 24589565 2014
Familial hyperchylomicronemia syndrome
0.050 GeneticVariation disease BEFREE Our finding supports L252V mutation in the LPL gene is a common mutation in Chinese with familial hyperchylomicronemia syndrome. 16460718 2006
Familial hyperchylomicronemia syndrome
0.050 Biomarker disease BEFREE The underlying molecular defects that lead to a deficiency of lipoprotein lipase in two patients from different kindreds presenting with the familial hyperchylomicronemia syndrome have been identified. 1505655 1992
Familial hyperchylomicronemia syndrome
0.050 GeneticVariation disease BEFREE Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. 1702428 1991