APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166 1989
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. 1977310 1990
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. 1793440 1991
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient. 1360085 1992
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. 1466657 1992
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation 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
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation 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
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation 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
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia. 8831935 1996
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. 8723684 1996
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. 9339363 1997
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205 1998
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation 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
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632 2000
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. 11137107 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. 11781700 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. 11494965 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. 17142622 2006
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. 17539906 2007
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations. 18700895 2008
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246 2008
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. 18096825 2008
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Genetic heterogeneity of autosomal dominant hypercholesterolemia. 18028451 2008