LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Lipoidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.010 AlteredExpression disease BEFREE Evidence is presented suggesting that apoprotein-E2 homozygosity in our patient, together with an 88% reduction in plasma lipoprotein lipase activity associated with severe nephrotic syndrome, is responsible for the atypical clinical features, lipoprotein phenotype III with chylomicronemia, and renal lipidosis. 8589283 1995