Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia. 24498611 2013
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. 22408029 2012
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN A new but frequent mutation of apoB-100-apoB His3543Tyr. 15135245 2004
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100. 9486979 1998
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. 9603795 1998
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691 1995
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Expression of human apolipoprotein B and assembly of lipoprotein(a) in transgenic mice. 8134359 1994
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166 1989
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
0.300 Biomarker disease CLINGEN Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. 3477815 1987