×
Entrez Id:
348
Gene Symbol:
APOE
APOE
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
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
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
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
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
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
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
Hyperlipoproteinemia Type III
0.800
Biomarker
CTD_human
Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2.
9649566
1998
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
Hyperlipoproteinemia Type III
0.800
Biomarker
CTD_human
Dysbetalipoproteinaemia--clinical and pathophysiological features.
12506591
2002
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
Hyperlipoproteinemia Type III
0.800
Biomarker
CTD_human
The great majority of patients with type III hyperlipidemia (type III HLP) are homozygous for the epsilon2 allele of the APOE gene.
16143024
2005
×
Entrez Id:
116519
Gene Symbol:
APOA5
APOA5
Hyperlipoproteinemia Type III
0.330
Biomarker
CTD_human
Polymorphisms in the apolipoprotein A5 (APOA5 ) gene and type III hyperlipidemia .
16143024
2005
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
Hyperlipoproteinemia Type III
0.800
SusceptibilityMutation
ORPHANET
Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the apolipoprotein A5 gene.
21463987
2011
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
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
Hyperlipoproteinemia Type III
0.800
Biomarker
GENOMICS_ENGLAND
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
22949395
2013
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
Hyperlipoproteinemia Type III
0.800
Biomarker
GENOMICS_ENGLAND
APOE p.Leu167del mutation in familial hypercholesterolemia.
24267230
2013
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
Hyperlipoproteinemia Type III
0.800
SusceptibilityMutation
ORPHANET
Dysbetalipoproteinaemia : a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E .
24405372
2014
×
Entrez Id:
348
Gene Symbol:
APOE
APOE
Hyperlipoproteinemia Type III
0.800
Biomarker
GENOMICS_ENGLAND
An atlas of genetic influences on human blood metabolites.
24816252
2014