LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hyperlipoproteinemia Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). 17717288 2007
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR We studied 3 subjects with familial LPL deficiency; 14 subjects heterozygous for the LPL gene mutations Gly188Glu, Trp64Stop, and Ile194Thr; and 10 control subjects. 22095987 2012
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia. 25966443 2015
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. 27055971 2016
dbSNP: rs118204061
rs118204061
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I 		C 0.800 CausalMutation CLINVAR High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 27573733 2016