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 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 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 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 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: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE The analysis of apoB gene, the main candidate gene in FHBL, revealed that the patient and her mother were heterozygotes for a novel nonsense mutation (Y1220X) predicted to cause the formation of a short truncated apoB (apoB-26.87) not secreted into the plasma. 15894400 2005
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE We present four novel mutations and one previously described mutation in APOB causing FHBL in five families. 12872264 2003
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. 1424233 1992
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). 27804036 2017
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE Mutations in apolipoprotein B (APOB) are the only confirmed causes of FHBL. 16619215 2006
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE We report the presence of two distinct defects of the gene for apolipoprotein B, one resulting in a new truncated variant, apoB-61, in a kindred with familial hypobetalipoproteinemia (FHB). 1619363 1992
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE More than 20 different mutations in the apoB gene have been shown to cause familial hypobetalipoproteinaemia, a condition characterized by abnormally low plasma concentrations of apoB and LDL cholesterol. 1619387 1992
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.500 GeneticVariation disease BEFREE A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5). 11019990 2000