Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | CausalMutation | disease | CLINVAR | Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. | 24234650 | 2014 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. | 22095935 | 2012 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. | 2563166 | 1989 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. | 7627691 | 1995 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC). | 18222178 | 2008 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. | 26415676 | 2015 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length. | 8468533 | 1993 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Molecular diagnosis of hypobetalipoproteinemia: an ENID review. | 17570373 | 2007 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. | 24507775 | 2014 |