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 GeneticVariation disease BEFREE The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. 28733173 2018
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 GeneticVariation disease UNIPROT Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia. 27206948 2017
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935 2017
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 Biomarker disease GENOMICS_ENGLAND Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. 25414277 2015
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. 26415676 2015
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. 24507775 2014
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 23936638 2013
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
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 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 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 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 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 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 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 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 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 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 Molecular diagnosis of hypobetalipoproteinemia: an ENID review. 17570373 2007
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 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 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 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 11238294 2001