Disease: Hyperlipoproteinemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		0.110 GeneticVariation disease BEFREE One patient with severe type 5 hyperlipoproteinemia (MIM 144650), fasting chylomicronemia and relapsing pancreatitis resistant to standard therapy was found to be homozygous for a novel GPIHBP1 missense variant, namely G56R. 17883852 2007
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		0.110 Biomarker disease HPO