Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation UNIPROT Here we applied whole-genome sequencing (WGS) to the DNA of a sporadic FAP patient in which we did not find any pathological APC mutations by direct sequencing. 27217144

2016

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the APC gene: report of a case. 19684041

2009

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features. 9496836

1998

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Of more immediate clinical interest is the observation that specific APC mutations appear to participate in the severity of the disease and determine the development of hypertrophy of the retinal pigment epithelium, a diagnostically important manifestation of the APC disease found in 70% of the patients. 7675542

1995

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family. 8381581

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation 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: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. 16158975

2005

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE The adenomatous polyposis coli (APC) gene, responsible for familial adenomatous polyposis, is also associated with development of sporadic tumors in digestive system as colon, stomach, or pancreas. 8242071

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis. 9182775

1997

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Genetic testing revealed a mutation in the 5' portion of the adenomatous polyposis coli (APC) gene, in a region associated with an attenuated APC phenotype. 22150579

2012

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis (FAP) is an autosomal-dominant colorectal cancer syndrome, caused by a germline mutation in the adenomatous polyposis coli (APC) gene, on chromosome 5q21. 16454848

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Samples of constitutional DNA from 60 unrelated patients with adenomatous polyposis coli (APC) were examined for mutations in the APC gene. 8381579

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE In the present study we screened all of the exons of the APC gene in individuals belonging to 85 Portuguese FAP families. 10923044

2000

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation LHGDN Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 17489848

2007

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE The purpose of this study was to determine the usefulness of a new method, submerged gel electrophoresis, in the detection of the most-frequent mutation of the APC gene [5-base pair (bp) deletion in codon 1309], especially in the presymptomatic diagnosis of FAP. 11485029

2001

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene. 9724771

1998

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation LHGDN The adenomatous polyposis coli (APC) gene was analyzed for germline mutations in 113 familial adenomatous polyposis suspected families from all over Slovakia. 18987576

2008

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE The adenomatous polyposis coli (APC) gene at chromosome 5q21 that is responsible for familial adenomatous polyposis (FAP) was recently isolated, and germ-line mutations in a substantial number of FAP families were characterized. 8385047

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans. 1350108

1992

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE DNA methylation was tested at Methylated IN Tumor (MINT) loci (1,2,12,31) and the CpG promoter region of genes MLH1, HPP1, MGMT, p14ARF and p16INK4a in FAP-associated adenomas (33) from 5 patients with a known APC mutation (Group 1, FAP), adenomas (29) from 4 Multiple Adenoma patients (Group 2 Multiple), adenomas (14) from 3 patients with sporadic colorectal cancers showing high microsatellite instability (Group 3, MSI-H) and adenomas (16) from 7 patients, with sporadic colorectal cancers showing microsatellite stable or low level instability (Group 4, MSS/MSI-L). 16152625

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β-catenin turnover, and heterozygous germ-line mutations in the APC gene cause familial adenomatous polyposis (FAP). 20564245

2010

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation LHGDN Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15. 12136240

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Until now, there has been no evidence about the expressive phenotype due to mutation in codons 1060-1061 of the APC gene; the role of germline missense mutation in codon 210 of the p53 gene in the FAP malignant process remains to be elucidated too. 11263856

2000

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation BEFREE Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. 7795585

1995

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation LHGDN Duodenojejunal polyposis was evaluated in 41 consecutive patients with familial adenomatous polyposis (mean age 41 years, range 21-63 years), 33 (80%) with known APC mutation, by using a standardized endoscopic protocol. 11868006

2002