APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Familial hypobetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. 22155345 2012
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 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: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE Multicompartmental modeling analysis showed that the delay time of apoB-48 was shorter and that apoB-48 production was decreased in FHBL subjects compared with controls. 17213276 2007
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. 1770316 1991
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Truncation-causing mutations in the APOB gene cause familial hypobetalipoproteinaemia, whereas mutations in MTP result in abetalipoproteinaemia; both rare conditions are characterised by marked hypocholesterolaemia. 16390683 2005
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene. 1995762 1991
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. 2022744 1991
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. 12124991 2002
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Other mutations in APOB can cause familial hypobetalipoproteinemia, characterized by hypocholesterolemia and resistance to atherosclerosis. 15308601 2004
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. 26073401 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE However, linkage of FHBL to the apoB gene was ruled out in 2 kindreds reported to date, and the genetic and metabolic bases for FHBL remain unknown. 10807747 2000
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE FHBL without truncated apoB is a heterogeneous disease from a metabolic and a genetic perspective. 21502677 2011
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE In subjects with familial hypobetalipoproteinemia heterozygous for truncated forms of apolipoprotein B, both apoB-100 and the truncated forms are produced at lower than expected rates. 10224159 1999
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE Therefore, we studied the in vivo kinetics of very-low-density lipoprotein (VLDL) triglycerides and VLDL apoB-100 simultaneously in 7 FHBL heterozygotes from 2 well-characterized kindreds and 7 healthy normolipidemic subjects. 10559016 1999
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Krul et al.(1) have identified two truncated species of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia. 2614276 1989
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment. 19344897 2009
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE ApoB production rates and IDL- and LDL-apoB FCRs were not different between FHBL subjects and controls. 26323024 2015
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE The purpose of this study was to characterize intestinal apolipoprotein B (apoB) metabolism in subjects with familial hypobetalipoproteinemia (FHBL), where segregation analysis supports linkage to the apoB gene but no apoB truncations are present. 9284903 1997
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Most mutations that cause FHBL are APOB truncating mutations. 21122650 2011
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). 9543100 1998
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE In a group of 59 patients with FHBL genotyped for APOB gene mutations, we found three novel splice-site mutations: c.904+4A-->G in intron 8, c.3843-2A-->G in intron 24 and c.4217-1G-->T in intron 25. 17158591 2007
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE The autosomal co-dominant disorder familial hypobetalipoproteinemia (FHBL) may be due to mutations in the APOB gene encoding apolipoprotein B (apoB), the main constituent peptide of chylomicrons, very low and low density lipoproteins. 26612772 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Familial hypobetalipoproteinemia (FHBL) is characterized by mutations in APOB, the majority of these causing protein truncations, and low plasma levels of apolipoprotein (apo) B. 26916057 2016
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE To date, only mutations in APOB encoding prematurely truncated apoB have been found in FHBL. 12551903 2003
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 Biomarker disease BEFREE The intercepts of regression lines of IPAT on liver fat content were similar in controls and 3p21, but higher in apoB-defective FHBL subjects. 15877300 2005