APOC2, apolipoprotein C2, 344

N. diseases: 68; N. variants: 14
Disease: Familial apolipoprotein C-II deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268199
Disease: Familial apolipoprotein C-II deficiency
Familial apolipoprotein C-II deficiency 		0.330 GeneticVariation disease BEFREE Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. 30307897 2018
CUI: C0268199
Disease: Familial apolipoprotein C-II deficiency
Familial apolipoprotein C-II deficiency 		0.330 Biomarker disease BEFREE This is the first description of apo C-II deficiency caused by Alu-Alu recombination in APOC2. 25172036 2015
CUI: C0268199
Disease: Familial apolipoprotein C-II deficiency
Familial apolipoprotein C-II deficiency 		0.330 GermlineCausalMutation disease ORPHANET Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene. 24589565 2014
CUI: C0268199
Disease: Familial apolipoprotein C-II deficiency
Familial apolipoprotein C-II deficiency 		0.330 Biomarker disease BEFREE Our observations in this study strongly suggest that familial apolipoprotein C-II deficiency is transmitted by an autosomal recessive mode of inheritance and heterozygotes of this disorder have no abnormalities of plasma lipid and lipoproteins in spite of the reduced plasma apolipoprotein C-II. 227429 1979