APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Acanthocytosis With Hypobetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 GeneticVariation disease UNIPROT Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia. 27206948 2017
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935 2017
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. 24507775 2014
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 23936638 2013
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. 22855658 2012
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 22294733 2012
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 GeneticVariation disease UNIPROT A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. 21981844 2012
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320 2011
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 18325181 2008
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		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
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Molecular diagnosis of hypobetalipoproteinemia: an ENID review. 17570373 2007
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003 2005
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. 15797858 2005
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 GeneticVariation disease UNIPROT A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. 12551903 2003
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		0.710 CausalMutation disease CLINVAR Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 11238294 2001