Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
Entrez Id: 338
Gene Symbol: APOB
APOB 		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
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. 9702952 1998
Entrez Id: 338
Gene Symbol: APOB
APOB 		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
Entrez Id: 338
Gene Symbol: APOB
APOB 		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
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691 1995
Entrez Id: 338
Gene Symbol: APOB
APOB 		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
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 CausalMutation disease CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166 1989
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.710 Biomarker disease CTD_human
Entrez Id: 27329
Gene Symbol: ANGPTL3
ANGPTL3 		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