APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Acanthocytosis With Hypobetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935 2017
dbSNP: rs771541567
rs771541567
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		0.700 GeneticVariation UNIPROT Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia. 27206948 2017
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. 26415676 2015
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
dbSNP: rs368825685
rs368825685
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		C 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. 24507775 2014
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 23936638 2013
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs1215189537
rs1215189537
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. 22855658 2012
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 22294733 2012
dbSNP: rs1558564161
rs1558564161
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		C 0.700 CausalMutation CLINVAR Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. 22095935 2012
dbSNP: rs771541567
rs771541567
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		0.700 GeneticVariation UNIPROT A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. 21981844 2012
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320 2011
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. 21868016 2011
dbSNP: rs1558560212
rs1558560212
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		G 0.700 GeneticVariation CLINVAR Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. 20032471 2010
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. 21059979 2010
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC). 18222178 2008
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. 18325181 2008
dbSNP: rs1215189537
rs1215189537
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of hypobetalipoproteinemia: an ENID review. 17570373 2007
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003 2005
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. 15797858 2005
dbSNP: rs771541567
rs771541567
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		0.700 GeneticVariation UNIPROT A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. 12551903 2003
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 11238294 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		A 0.700 CausalMutation 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