rs267606661, APOE

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.030 GeneticVariation BEFREE The second, carrying both the rare isoforms apoE1(Gly127-->Asp, Arg158-->Cys) and apoE3(Cys112-->Arg, Arg251-->Gly), presented a hypertriglyceridaemia at the age of 10.3. 9279208 1997
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.030 GeneticVariation BEFREE None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia. 8156744 1994
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.030 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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease. 9360638 1997
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
0.010 GeneticVariation BEFREE In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis. 9360638 1997
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease. 9360638 1997
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.010 GeneticVariation BEFREE In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis. 9360638 1997
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.010 GeneticVariation BEFREE In relatives of the proband, APOE R112; R251G was consistently found in subjects with both hyperlipidemia and atherosclerosis. 9360638 1997
Hyperlipoproteinemias
CUI: C0020476
Disease: 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
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease. 9360638 1997
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.010 GeneticVariation BEFREE None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia. 8156744 1994
Hypercholesterolemia
CUI: C0020443
Disease: 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