Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion. 28111074

2017

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively. 22481068

2012

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY
0.800 GeneticVariation UNIPROT APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. 18077821

2007

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Interaction of the N-terminal domain of apolipoprotein E4 with heparin. 11258893

2001

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Apolipoprotein E fragments present in Alzheimer's disease brains induce neurofibrillary tangle-like intracellular inclusions in neurons. 11447277

2001

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. 10903326

2000

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY
0.800 GeneticVariation UNIPROT Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. 10903326

2000

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY
0.800 GeneticVariation UNIPROT We detected a novel point mutation in the apo E gene in a patient with LPG, and we characterized the mutant apo E. 10432380

1999

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY
0.800 GeneticVariation UNIPROT Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 9176854

1997

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Apolipoprotein E-containing high density lipoprotein promotes neurite outgrowth and is a ligand for the low density lipoprotein receptor-related protein. 8939961

1996

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). 7635945

1995

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539

1994

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Human apolipoprotein E. Role of arginine 61 in mediating the lipoprotein preferences of the E3 and E4 isoforms. 8071364

1994

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease. 7972031

1994

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Isoform-specific interactions of apolipoprotein E with the microtubule-associated protein MAP2c: implications for Alzheimer's disease. 7891887

1994

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. 8346443

1993

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. 8367470

1993

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

1991

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.800 GeneticVariation UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398

1989

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT Nucleotide sequence and structure of the human apolipoprotein E gene. 2987927

1985

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.600 GeneticVariation UNIPROT Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. 26802169

2016

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.600 GeneticVariation UNIPROT APOE p.Leu167del mutation in familial hypercholesterolemia. 24267230

2013