APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Hypobetalipoproteinemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Metabolism of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia without a truncated form of apoB. 9101440 1997
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48. 8263419 1993
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Other mutations in APOB can cause familial hypobetalipoproteinemia, characterized by hypocholesterolemia and resistance to atherosclerosis. 15308601 2004
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. 22155345 2012
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. 2574033 1990
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE The proband's wife and children presented with familial hypobetalipoproteinemia and were heterozygotes for the novel apoB H1401R variant. 22658148 2012
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 Biomarker disease BEFREE Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred. 2901434 1988
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL. 1619363 1992
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE We examined a mutant human apolipoprotein B (apoB) allele that causes hypobetalipoproteinemia and has a single cytosine deletion in exon 26. 1454832 1992
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 AlteredExpression disease BEFREE Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population. 21874758 2011
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease LHGDN Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. 19056372 2009
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE We have reported previously on two truncations of apolipoprotein B (apo B-40 and apo B-89) in a kindred with hypobetalipoproteinemia. 1602000 1992
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 Biomarker disease BEFREE A truncated species of apo-B was identified in the plasma lipoproteins of members of a kindred with familial hypobetalipoproteinemia. 3399894 1988
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Homozygosity for a rare missense mutation in the βα1 domain of apoB may be the cause of both severe hypobetalipoproteinemia and intestinal lipid malabsorption. 26612772 2016
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. 1770316 1991
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 Biomarker disease BEFREE Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. 10559016 1999
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. 18848826 2009
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 Biomarker disease BEFREE Familial hypobetalipoproteinemia represents a heterogeneous group of genetic defects in which the concentrations of plasma apolipoprotein B and apo-B-containing lipoproteins VLDL and LDL are abnormally low. 8311419 1993
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus. 9714141 1998
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. 11590210 2001
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease LHGDN A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. 12551903 2003
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 Biomarker disease BEFREE Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization. 8770313 1995
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 Biomarker disease BEFREE One individual had a truncated apoB as a cause of HBLP, for a prevalence of 0.03%. 9812913 1998
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. 20032471 2010
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.200 GeneticVariation disease BEFREE In this report, we characterize four different apoB gene mutations causing hypobetalipoproteinemia that are associated with the synthesis of truncated apoB proteins. 8468533 1993