Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | CausalMutation | disease | CLINVAR | The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. | 11115503 | 2001 | ||||
|
0.710 | CausalMutation | disease | 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 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. | 9702952 | 1998 | ||||
|
0.710 | CausalMutation | disease | 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 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. | 9105560 | 1997 | ||||
|
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 | 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 | Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. | 2563166 | 1989 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Compared with controls, prevalence and severity of hepatic steatosis were increased in heterozygous FHBL1 (P < .001), but unchanged in FHBL2 individuals. | 28733173 | 2018 |