APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient. 1360085 1992
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. 1466657 1992
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. 1793440 1991
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. 1977310 1990
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166 1989
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 Biomarker disease BEFREE Apolipoprotein B metabolism in homozygous familial hypercholesterolemia. 2715722 1989
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691 1995
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR "Accumulation of ""small dense"" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor." 8254047 1993
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation. 8318993 1993
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder. 8371062 1993
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. 8723684 1996
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia. 8831935 1996
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype. 9191540 1997
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. 9339363 1997
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 Biomarker disease BEFREE Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia. 9626156 1998
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 Biomarker disease BEFREE An oral fat load was given, and chylomicron plasma kinetics was determined by monitoring the clearance of triglyceride, retinyl palmitate and apolipoprotein B48, calculated as the area under the curve, for 7.5 h. In addition, the binding and uptake of chylomicron remnants by fibroblasts of FH and control subjects were assessed in vitro. 9650011 1998
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205 1998
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. 9702952 1998
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. 10208479 1999
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL. 10388479 1999
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are. 10529757 1999
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632 2000
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. 11137107 2001