Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 Biomarker disease CTD_human
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166 1989
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691 1995
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length. 8468533 1993
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. 9105560 1997
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 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
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. 9702952 1998
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 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
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 11238294 2001
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 GeneticVariation disease UNIPROT A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. 12551903 2003
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. 15797858 2005
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003 2005
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Molecular diagnosis of hypobetalipoproteinemia: an ENID review. 17570373 2007
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC). 18222178 2008
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 18325181 2008
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 GeneticVariation disease CLINVAR Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. 20032471 2010
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. 21059979 2010
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320 2011
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. 21868016 2011
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 GeneticVariation disease UNIPROT A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. 21981844 2012
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. 22095935 2012
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 22294733 2012
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. 22855658 2012
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013