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: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE Interestingly, the silencing of APC did not alter expression of beta-catenin or the apoptotic regulatory factors Bax, Bcl-xL, or survivin. 18160396 2008
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE It has been suggested that APC could function through its regulation of beta-catenin, an ubiquitous cytoskeletal protein with multiple binding specificities resulting in diverse functions including cell growth, adhesion, and migration. 10668214 2000
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE Microsatellite analysis of APC and immunoexpression of beta catenin did not provide significant pathological or prognostic information in this cohort of nephroblastomas. 15623481 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE Wild-type APC activity in beta-catenin-/Tcf-mediated transcription was strongly inhibited by a mutant APC that is truncated at codon 1309. 10213492 1999
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE The APC tumor suppressor is well known for its ability to regulate Wnt signaling through mediation of beta-catenin levels in the cell. 18474248 2008
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE APC helps regulate the cellular level of beta-catenin, which is a downstream mediator in Wnt (Wingless) signaling. beta-Catenin has a nuclear function (binds transcription factors) and a cell membrane function (is a component of epithelial cell adherens junctions). 9250146 1997
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE The tumor suppressor function of APC is attributed primarily to its ability to regulate the WNT pathway by targeting the destruction of beta-catenin. 17028196 2006
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Using the adenomatous polyposis coli (APC) gene as an example, we identified 210 highly reliable SNPs by next-generation sequencing analysis program MAQ and Samtools, of which 69 were novel ones, in the 123-kb APC genomic region in 27 pair of colorectal cancers and normal adjacent tissues. 20569184 2010
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 GeneticVariation disease BEFREE In 10-30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (<100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (APC) gene can be identified (APC mutation-negative). 16287072 2006
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE FAP kindreds without detected APC gene mutations present with a notably milder disease phenotype compared with APC positive families, suggesting that different genetic factors might be involved. 9824350 1998
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE We detected a germline rearrangement of the APC gene in a Dutch FAP family by screening genomic DNA samples with APC cDNA probes. 7669739 1995
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 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: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE The study investigated the relationship between clinicopathological characteristics, Helicobacter pylori (Hp) infection, adenomatous polyposis coli (APC) promoter methylation, APC and β-catenin immunohistochemistry expression and mutation status, compared with 38 gastric adenoma and periadenomatous tissues (PTs). 22741528 2012
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Patients with the colorectal phenotype of FAP but no extraintestinal manifestations may have non-truncating mutations of the APC gene or mutation in a gene other than APC or mismatch repair genes. 9176082 1997
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE The cellular polarity of intestinal tumor cells was examined using APC(Min/+) mice as an in vivo model and SW480 cells with a truncating mutation in the adenomatous polyposis coli (APC) gene as an in vitro model by confocal microscopy. 21484796 2012
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE In this study we set out to test the hypothesis that loss of Rassf1a can cooperate with inactivation of the adenomatous polyposis coli (Apc) gene to accelerate intestinal tumourigenesis using the Apc-Min (Apc(Min/+)) mouse model, as mutational or deletional inactivation of APC is a frequent early event in the genesis of intestinal cancer. 18391979 2008
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 GeneticVariation disease BEFREE APC and CTNNB1 mutations in a large series of sporadic colorectal carcinomas stratified by the microsatellite instability status. 12408524 2002
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE The abnormality in the APC / beta-catenin pathway is thus also important in FAP-associated thyroid carcinoma, and beta-catenin immunohistochemistry is a feasible screening method to identify occult FAP in young patients with thyroid tumors. 11092973 2000
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 AlteredExpression disease BEFREE To determine whether beta-catenin protein level was responsible for the change in proliferation rate, stable transfections of deltaN89beta-catenin (a stabilized form that is not degraded by APC, but retains all other functions) were achieved in half of the cultures derived from each tumor, whereas the other half were transfected with an empty vector. 9736021 1998
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE APC has both nuclear localization signals and nuclear export signals in its molecule, suggesting its occasional nuclear localization and export of beta-catenin from the nucleus. 17572842 2007
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE However, among several human colon cancer cell lines surveyed, expression of GKLF is lowest in RKO, a line with wild-type APC and beta-catenin. 11521200 2001