APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 Biomarker disease BEFREE We report hypobetalipoproteinemia (LDL cholesterol [LDL-C] and apolipoprotein B below the fifth percentile) in a large cohort of patients with type I CDG (mean age, 9 years), together with reduced LDL-C and apolipoprotein B in clinically unaffected heterozygous relatives (mean age, 46 years), compared with 2 separate sets of age- and sex-matched control subjects. 31117816 2019
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). 31253576 2019
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 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: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations. 26073401 2016
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. 27179706 2016
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 The identification of ApoB loss-of-function mutations in type 1 diabetic patients presents innovative cases to study the interaction between hypobetalipoproteinemia and insulin deficiency. 25430706 2015
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. 26323024 2015
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease CLINVAR Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014. 25335495 2015
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 Biomarker disease BEFREE "Primary hypobetalipoproteinemia" refers to an eclectic group of inherited lipoprotein disorders characterized by low concentrations of or absence of low-density lipoprotein cholesterol and apolipoprotein B in plasma. 24781598 2014
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease CLINVAR Hypobetalipoproteinemia and abetalipoproteinemia. 24751931 2014
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE These results demonstrated that in a cohort of subjects with severe primary hypobetalipoproteinemia the prevalence of ANGPTL3 gene mutations responsible for a combined hypolipidemia phenotype is about 10%, whereas mutations of APOB gene are absent. 22247256 2012
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 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 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 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 Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. 19344897 2009
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 Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. 18848826 2009
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 AlteredExpression disease BEFREE Familial hypobetalipoproteinemia is a disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B as well as low levels of total and low-density lipoprotein cholesterol. 19773654 2009
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. 19084451 2009
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease LHGDN Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia. 17158591 2007
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and in 102 hypocholesterolemic blood donors who were negative for APOB gene mutations known to cause familial hypobetalipoproteinemia. 17170371 2007
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 GeneticVariation disease BEFREE We showed that heterozygotes for a new mutation in APOB have hypobetalipoproteinemia, despite a reduced binding of LDL to the LDL receptor. 15797858 2005
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
0.200 AlteredExpression disease LHGDN Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL. 15585207 2005