| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Genetic diagnosis of familial hypercholesterolemia in Han Chinese. | 27206935 | 2017 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. | 26415676 | 2015 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. | 24234650 | 2014 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. | 23936638 | 2013 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. | 22294733 | 2012 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Array-based resequencing for mutations causing familial hypercholesterolemia. | 21376320 | 2011 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Update of the molecular basis of familial hypercholesterolemia in The Netherlands. | 16250003 | 2005 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. | 11238294 | 2001 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
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 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. | 9702952 | 1998 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
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 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. | 7627691 | 1995 | |||||
Acanthocytosis With Hypobetalipoproteinemia
|
0.700 | CausalMutation | CLINVAR | Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. | 2563166 | 1989 |