LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Type I hyperlipidaemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261969
Disease: Type I hyperlipidaemia
Type I hyperlipidaemia 		0.050 GeneticVariation disease BEFREE Familial chylomicronemia (type I hyperlipidemia) is a rare autosomal recessive disease due mainly to rare variants in the lipoprotein lipase (LPL) gene sequence. 24291057 2014
CUI: C1261969
Disease: Type I hyperlipidaemia
Type I hyperlipidaemia 		0.050 GeneticVariation disease BEFREE So far, several mutations on the lipoprotein lipase (LPL) gene causing type I hyperlipidemia have been identified. 11412826 2001
CUI: C1261969
Disease: Type I hyperlipidaemia
Type I hyperlipidaemia 		0.050 GeneticVariation disease BEFREE These results suggest that MCT, as opposed to LCT, is useful for treatment of type I hyperlipidemia with a novel mutation at the notable amino acid Asn 291 of the LPL gene. 10481934 1999
CUI: C1261969
Disease: Type I hyperlipidaemia
Type I hyperlipidaemia 		0.050 GeneticVariation disease BEFREE A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. 8096693 1993
CUI: C1261969
Disease: Type I hyperlipidaemia
Type I hyperlipidaemia 		0.050 Biomarker disease BEFREE A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. 1731801 1992