APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Abetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.010 GeneticVariation disease BEFREE Since this proband was also homozygous for varepsilon2 allele of apolipoprotein E (apo E), it is likely that his hypobetalipoproteinemia derives from a combined effect of a mild MTP deficiency and homozygosity for apo E2 isoform. 15910857 2005