LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Eruptive xanthoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221252
Disease: Eruptive xanthoma
Eruptive xanthoma 		0.110 GeneticVariation disease BEFREE Lipoprotein lipase (LPL) deficiency, caused by mutations in the LPL gene, is a rare autosomal recessive disorder manifesting in early childhood with recurrent abdominal pain, hepatosplenomegaly, acute pancreatitis, lipaemia retinalis and eruptive xanthomas. 25863041 2014
CUI: C0221252
Disease: Eruptive xanthoma
Eruptive xanthoma 		0.110 Biomarker disease HPO