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APOE - apolipoprotein E

Synonym(s) :
Previous symbols and names : AD2, Alzheimer disease 2 (APOE*E4-associated, late onset)
Type : gene with protein product
Chromosomal location : 19q13.32
OMIM: 107741
HGNC: 613
UniProtKB: P02649
Genatlas: APOE
GenCC: APOE
Ensembl: ENSG00000130203
IUPHAR-DB: -
Reactome: P02649
LOVD: APOE

Diseases list

Disease-causing germline mutation(s) in Lipoprotein glomerulopathy ORPHA:329481
Disease-causing germline mutation(s) in NON RARE IN EUROPE: Alzheimer disease ORPHA:238616
Disease-causing germline mutation(s) in NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia ORPHA:406
Disease-causing germline mutation(s) in Sea-blue histiocytosis ORPHA:158029
Major susceptibility factor in Dysbetalipoproteinemia ORPHA:412
Major susceptibility factor in NON RARE IN EUROPE: Dementia with Lewy body ORPHA:1648

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (219)

Research activities on this gene

Specialised Social Services

Eurordis directory

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