| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. | 24784157 | 2014 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. | 22353362 | 2012 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. | 22294733 | 2012 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Array-based resequencing for mutations causing familial hypercholesterolemia. | 21376320 | 2011 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. | 20538126 | 2010 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population. | 17964958 | 2007 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. | 11833852 | 2001 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. | 11238294 | 2001 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL. | 10388479 | 1999 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are. | 10529757 | 1999 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. | 9702952 | 1998 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype. | 9191540 | 1997 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. | 7627691 | 1995 |