LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Familial lipoprotein deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268197
Disease: Familial lipoprotein deficiency
Familial lipoprotein deficiency 		0.010 GeneticVariation disease BEFREE The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. 9401010 1997