|
rs1050106163
|
|
Retinitis punctata albescens (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
|
8554077 |
1996 |
|
rs11542029
|
|
Ischemic stroke
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results of this study indicate that the ACE I/D and β-FG T148C combination may result in significantly higher risk of IS in this Chinese population.
|
26710338 |
2015 |
|
rs11542035
|
|
Dyslipidemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Identification and characterization of a novel apolipoprotein E variant, apolipoprotein E3' (Arg136-->His): association with mild dyslipidemia and double pre-beta very low density lipoproteins.
|
7706948 |
1995 |
|
rs11542037
|
|
Hyperlipoproteinemia Type III
|
|
0.010 |
GeneticVariation
|
BEFREE |
Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia.
|
8830931 |
1996 |
|
rs11542041
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met).
|
25741405 |
2015 |
|
rs11542041
|
|
Migraine Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine.
|
25819272 |
2015 |
|
rs11542041
|
|
Endometrial Hyperplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met).
|
25741405 |
2015 |
|
rs11542041
|
|
Cerebrovascular accident
|
|
0.010 |
GeneticVariation
|
BEFREE |
Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine.
|
25819272 |
2015 |
|
rs11542041
|
|
Hypercholesterolemia, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compound heterozygotes for a novel mutation, apo E1 Nagoya (Arg142Ser) and Apo E2 (Arg158Cys), with severe type III hyperlipoproteinemia and familial hypercholesterolemia.
|
24953047 |
2014 |
|
rs11542041
|
|
Hyperlipoproteinemia Type IIa
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compound heterozygotes for a novel mutation, apo E1 Nagoya (Arg142Ser) and Apo E2 (Arg158Cys), with severe type III hyperlipoproteinemia and familial hypercholesterolemia.
|
24953047 |
2014 |
|
rs11542041
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
ApoE single nucleotide polymorphisms (SNPs) Cys112Arg (Epsilon-4), and Arg158Cys (Epsilon-2) have been implicated in cardiovascular and Alzheimer's disease, but their role in colorectal cancer (CRC) has not been extensively studied.
|
19455140 |
2009 |
|
rs11542041
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
ApoE single nucleotide polymorphisms (SNPs) Cys112Arg (Epsilon-4), and Arg158Cys (Epsilon-2) have been implicated in cardiovascular and Alzheimer's disease, but their role in colorectal cancer (CRC) has not been extensively studied.
|
19455140 |
2009 |
|
rs11542041
|
|
LIPOPROTEIN GLOMERULOPATHY
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
|
17593519 |
2007 |
|
rs11542041
|
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we investigated the association between ApoE C112R/R158C single nucleotide polymorphisms (which determine the E2, E3, and E4 isoforms) and age-related macular degeneration (AMD), and the mechanism underlying the association.
|
16823865 |
2006 |
|
rs11542041
|
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop).
|
15657615 |
2005 |
|
rs11542041
|
|
Coronary heart disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop).
|
15657615 |
2005 |
|
rs11542041
|
|
Coronary Artery Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop).
|
15657615 |
2005 |
|
rs11542041
|
|
Hyperlipoproteinemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.
|
9279208 |
1997 |
|
rs11542041
|
|
Hypercholesterolemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Family studies failed to demonstrate cosegregation between the new mutations and severe hyperlipoproteinemia, although a number of carriers for the APOE*3(Cys112-->Arg; Arg251-->Gly) allele and the APOE*1(Arg158-->Cys; Leu252-->Glu) allele expressed hypertriglyceridemia and/or hypercholesterolemia.
|
8488843 |
1993 |
|
rs11542041
|
|
Polygenic hypercholesterolemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
This explains the significant effect of the apoE gene locus on the variability of plasma lipoprotein concentrations and moreover the implication of apoE alleles in the aetiology of multifactorial forms of hyperlipidaemia e.g. familial type III hyperlipidaemia (apoE2; arg158----cys) and polygenic hypercholesterolaemia (apoE4; cys112----arg).
|
3141688 |
1988 |
|
rs11542041
|
|
Hyperlipidemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
This explains the significant effect of the apoE gene locus on the variability of plasma lipoprotein concentrations and moreover the implication of apoE alleles in the aetiology of multifactorial forms of hyperlipidaemia e.g. familial type III hyperlipidaemia (apoE2; arg158----cys) and polygenic hypercholesterolaemia (apoE4; cys112----arg).
|
3141688 |
1988 |
|
rs1167428194
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Nonetheless, the AD associated intronic haplotype is linked to the 338A variant of known ECE1b promoter variant, 338C>A (rs213045).
|
22693153 |
2012 |
|
rs121918392
|
|
Hyperlipidemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A case of hyperlipidemia with homozygous apolipoprotein E5 (Glu3-->Lys).
|
12069856 |
2002 |
|
rs121918393
|
|
Lipid Metabolism Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, so far unidentified factors (environmental and/or genetic) are important for the development of lipid metabolism disorders in apoE Arg136-->Ser mutation carriers.
|
15641930 |
2005 |
|
rs121918393
|
|
Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele.
|
12929622 |
2003 |