DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Sea-Blue Histiocyte Syndrome ×

Gene: APOE ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	348
Gene Symbol:	APOE

APOE

CUI:	C0036489
Disease:	Sea-Blue Histiocyte Syndrome

Sea-Blue Histiocyte Syndrome

0.700

Biomarker

GENOMICS_ENGLAND

An atlas of genetic influences on human blood metabolites.

24816252

2014

Entrez Id:	348
Gene Symbol:	APOE

APOE

CUI:	C0036489
Disease:	Sea-Blue Histiocyte Syndrome

Sea-Blue Histiocyte Syndrome

0.700

GermlineCausalMutation

ORPHANET

Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].

11095479

2000

Entrez Id:	348
Gene Symbol:	APOE

APOE

CUI:	C0036489
Disease:	Sea-Blue Histiocyte Syndrome

Sea-Blue Histiocyte Syndrome

0.700

Biomarker

CTD_human

Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].

11095479

2000

Entrez Id:	348
Gene Symbol:	APOE

APOE

CUI:	C0036489
Disease:	Sea-Blue Histiocyte Syndrome

Sea-Blue Histiocyte Syndrome

0.700

Biomarker

HPO

Entrez Id:	348
Gene Symbol:	APOE

APOE

CUI:	C0036489
Disease:	Sea-Blue Histiocyte Syndrome

Sea-Blue Histiocyte Syndrome

0.700

CausalMutation

CLINVAR