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 CausalMutation disease CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691 1995
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 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 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 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 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
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 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 GeneticVariation disease UNIPROT A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. 21981844 2012