APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Sea-Blue Histiocyte Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		0.700 GermlineCausalMutation disease ORPHANET Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. 11095479 2000
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		0.700 Biomarker disease CTD_human Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. 11095479 2000
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		0.700 Biomarker disease HPO
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		0.700 CausalMutation disease CLINVAR