Gene: APOB ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 GeneticVariation disease BEFREE PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report. 28988723 2018
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 CausalMutation disease CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935 2017
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 GeneticVariation disease BEFREE Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians. 27919345 2017
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 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 		0.800 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 		0.800 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 		0.800 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 		0.800 CausalMutation disease CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 Biomarker disease CLINGEN Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 CausalMutation disease CLINVAR Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 23936638 2013
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 Biomarker disease CLINGEN Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia. 24498611 2013
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 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 		0.800 Biomarker disease GENOMICS_ENGLAND Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. 23433573 2013
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 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 		0.800 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 		0.800 Biomarker disease CLINGEN Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. 22408029 2012
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 CausalMutation disease CLINVAR Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. 22855658 2012
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 CausalMutation disease CLINVAR Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. 21862702 2011
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 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 		0.800 GeneticVariation disease UNIPROT Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890 2011
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 CausalMutation disease CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320 2011
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.800 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 		0.800 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 		0.800 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 		0.800 CausalMutation disease CLINVAR Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC). 18222178 2008