LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hypertriglyceridemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35414700
rs35414700
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0020557
Disease:
Hypertriglyceridemia 		0.020 GeneticVariation BEFREE We identified a rare mutation in the LPL gene causing severe hypertriglyceridemia: a nucleotide substitution (c.836T>G) resulting in a leucine to arginine substitution at position 279 of the protein (p.Leu279Arg).The pathogenicity of the variant was predicted by in silico analysis using PolyPhen2 and SIFT prediction programs, which indicated that mutation p.Leu279Arg is probably harmful. 29479812 2018
dbSNP: rs35414700
rs35414700
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0020557
Disease:
Hypertriglyceridemia 		0.020 GeneticVariation BEFREE Leu252Val and Leu252Arg are the likely cause of hypertriglyceridemia in these subjects because of their deleterious effects on LPL activity or secretion. 10619999 2000