|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.
|
22481068 |
2012 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.
|
22962670 |
2012 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
We have identified a kindred in which heterozygosity for an apoE mutant, apoE-1 (Lys146-->Glu), is dominantly associated with the expression of type III hyperlipoproteinemia.
|
7635945 |
1995 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
|
8287539 |
1994 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
|
1361196 |
1992 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
|
2101409 |
1991 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
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 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.
|
2556398 |
1989 |
|
rs121918394
|
|
Hyperlipoproteinemia Type III
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).
|
2738044 |
1989 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively.
|
22481068 |
2012 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).
|
7635945 |
1995 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
|
8287539 |
1994 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
|
1361196 |
1992 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
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 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
|
2101409 |
1991 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).
|
2738044 |
1989 |
|
rs121918393
|
|
Hyperlipoproteinemia Type III
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.
|
2556398 |
1989 |
|
rs121918397
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.830 |
GeneticVariation
|
UNIPROT |
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy.
|
18077821 |
2007 |
|
rs121918397
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Recent studies identified several apoE mutations in patients with LPG, including apoE2(R145P) Sendai (apoE-Sendai).
|
10903326 |
2000 |
|
rs121918397
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Lipoprotein glomerulopathy (LPG) is characterized by intraglomerular lipoprotein thrombosis and high plasma concentrations of apolipoprotein (apo) E. An apo E variant, apo E2 (Arg145Pro) Sendai, was recently identified in three patients with LPG.
|
10432380 |
1999 |
|
rs121918397
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.
|
9176854 |
1997 |
|
rs121918399
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.820 |
GeneticVariation
|
UNIPROT |
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy.
|
18077821 |
2007 |
|
rs121918399
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice.
|
10903326 |
2000 |
|
rs121918399
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Apo E2 (Arg25Cys) Kyoto is a novel mutation of apo E that is etiologically related to LPG.
|
10432380 |
1999 |
|
rs121918399
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.
|
9176854 |
1997 |