Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.120 GeneticVariation disease BEFREE We identified a novel SCN5A variant (A1656D) in a LQTS patient with a distinct response to mexiletine resulting in suppression of non-sustained ventricular tachycardia and manifestation of premature atrial contraction. 31506521 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.120 GeneticVariation disease BEFREE In BrS, the presence of an SCN5A mutation is associated with intra-atrial conduction slowing and suppressed atrial ectopic activity. 21273195 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.120 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease BEFREE To understand and dissect the mechanisms driving human NK cell proliferation, we exploited the methodology used in cell therapy to numerically expand NK cells in the presence of K562-derived artificial APC (aAPCs) and cytokines. 31201235 2019
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease BEFREE The adenomatous polyposis coli (APC) gene plays, among other things, a crucial role in the regulation of cell proliferation and survival through its ability to regulate canonical Wnt signaling.In this issue of the JCI, Wang et al. provide an intriguing new mechanism for APC function involving the regulation of a novel long noncoding RNA (lncRNA), leading to changes in exosome production. 30640173 2019
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE While not all APC mutant peptides are inmmunogenic, a few qualify as vaccine candidates offering novel treatment opportunities to patients with somatic APC gene mutations to delay/treat colorectal cancer. 30256815 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE Mechanistic analysis demonstrated that miR-106a-3p specifically targeted the adenomatous polyposis coli (APC) gene, and LINC01133/miR-106a-3p suppressed the EMT and metastasis by inactivating the Wnt/β-catenin pathway in an APC-dependent manner. 30134915 2018
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease BEFREE Four (14%) were found to have APC pathogenic truncations of the APC protein and in addition two (7%) had APC missense variants of unknown clinical significance. 29251405 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 GeneticVariation disease BEFREE The corresponding hot spot mutations are located in exon 3 of the CTNNB1 gene or alternatively, in the APC tumor suppressor gene, most often as a germline mutation. 29705714 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE There are at least five mechanisms by which APC can regulate the formation of the β-catenin/TCF complex: This paper presents a computational model for the Wnt pathway that explicitly includes the above five roles of APC in regulating β-catenin/TCF formation. 30110600 2018
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease BEFREE Resistance to APC (APCR) is a very important cause of thrombophilia and most frequently caused by the Leiden mutation. 28063132 2017
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease BEFREE CtBP interacts with adenomatous polyposis coli (APC) protein, and is stabilized in both APC-mutated human colon cancers and Apc<sup>min/+</sup> intestinal polyps. 28414304 2017
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer. 28576136 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 GeneticVariation disease BEFREE APC deletion deregulates β-catenin, leads to high Wnt tone, and disrupts Notch1 signaling and primary cilium maintenance necessary for radial progenitor functions. 28916710 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE These data establish OLFM4 as a critical negative regulator of the Wnt/β-catenin and NF-κB pathways that inhibits colon-cancer development initiated by APC mutation. 26973250 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation disease BEFREE Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis. 26684191 2016
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Chinese and English literature on APC germline mutations were reviewed to compile the mutation spectrum of APC gene in Chinese FAP patients. 26625971 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 Biomarker disease BEFREE APC haploinsufficiency coupled with p53 loss sufficiently induces mucinous cystic neoplasms and invasive pancreatic carcinoma in mice. 26411367 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE Mutations of APC and KRAS are frequently observed in human colorectal cancers (CRCs) and the Wnt/β-catenin and Ras pathways are consequently activated in a significant proportion of CRC patients. 27470214 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 AlteredExpression disease BEFREE APC and MUTYH mRNA expression levels were investigated by quantitative Real-Time PCR (qRT-PCR) analysis using TaqMan assay and by ASE assays using dHPLC-based primer extension. 26511139 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE PTEN inactivation by mutation or allelic loss also occurs in CRCs. miR‑135b was reported to be upregulated in CRCs and its overexpression was due to APC/β‑catenin and PTEN/PI3K pathway deregulation. 25571954 2015
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE FAP is associated with germline defects of APC tumor suppressor gene; although truncating mutations account for the majority of cases, large APC deletions represent a common disease-causing defect. 25159889 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE APC is best known as a scaffold protein in the β-catenin destruction complex, whose activity is antagonized by canonical Wnt signaling. 26193883 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE Regulation of the phosphorylation and nuclear import and export of β-catenin by APC and its cancer-related truncated form. 24496450 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE APC is best known for its role as a negative regulator of the Wnt/β -catenin pathway. 24200292 2014