LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Lipase deficiency combined ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855498
Disease: Lipase deficiency combined
Lipase deficiency combined 		0.010 AlteredExpression disease BEFREE Mice carrying the combined lipase deficiency (cld) mutation show severe hypertriglyceridemia owing to a decrease in the activity of LPL and a related enzyme, hepatic lipase (HL), caused by impaired maturation of nascent LPL and hepatic lipase polypeptides in the endoplasmic reticulum (ER). 17994020 2007