APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Hypobetalipoproteinemia, Familial, Apolipoprotein B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704299
Disease: Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypobetalipoproteinemia, Familial, Apolipoprotein B 		0.310 GeneticVariation disease BEFREE To examine the consequences of apolipoprotein B deficiency in mice, we used gene targeting in mouse embryonic stem cells to generate mice containing an insertional disruption of the 5' region of the apolipoprotein B gene. 7878058 1995
CUI: C1704299
Disease: Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypobetalipoproteinemia, Familial, Apolipoprotein B 		0.310 Biomarker disease CTD_human Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. 2567736 1989
CUI: C1704299
Disease: Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypobetalipoproteinemia, Familial, Apolipoprotein B 		0.310 Biomarker disease CTD_human Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. 2843815 1988
CUI: C1704299
Disease: Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypobetalipoproteinemia, Familial, Apolipoprotein B 		0.310 Biomarker disease CTD_human Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100. 3473077 1987