Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 SusceptibilityMutation disease CLINVAR
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 CausalMutation disease CLINVAR
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease HPO
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Here we report the disruption of the APC gene caused by somatic insertion of a long interspersed repetitive element (LINE-1 sequence) into the last exon of the APC gene in a colon cancer. 1310068 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE High-resolution banding studies indicated that the deletion in the patient with polyposis spans the region 5q21-q22, which includes APC, a gene involved in familial adenomatous polyposis and sporadic colon cancer. 1315124 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Mutations in the APC gene give rise to familial adenomatous polyposis (FAP) and also occur in many, perhaps most, sporadic colon cancers. 1355210 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression disease BEFREE They imply that inactivation of APC, MCC, and/or a linked gene on chromosome 5q plays a role in the pathogenesis of some cancers of the upper gastrointestinal tract, as well as in colon cancer and familial adenomatous polyposis. 1565631 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease CTD_human Specific 5'-GGGA-3'-->5'-GGA-3' mutation of the Apc gene in rat colon tumors induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 7846077 1995
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE The APC gene, mutations in which are responsible for the inherited colon cancer syndrome adenomatous polyposis coli (APC), is described as a tumor suppressor gene. 7882361 1995
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary-non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer. 7903889 1993
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. 8381581 1993
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE A database is described in which over 700 mutations in the human APC gene of tumors (colon cancer predominantly) are compiled from the literature. 8594558 1996
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease CTD_human Genetic alterations in rat colon tumors induced by heterocyclic amines. 8608549 1996
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Mutations in the adenomatous polyposis coli gene (which encodes a protein called APC) are associated with the formation of intestinal polyps and colon cancers. 8990193 1997
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE In summary, we did not detect any functional mutations of the APC gene in a wide variety of tumors except for a colon cancer cell line, suggesting that alterations of the APC gene do not have a major role in the development of lung and renal cancers, various types of sarcomas, or hematological malignancies. 9083931 1997
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE The APC/MCC gene (Familial Adenomatous Polyposis) at 5q21 plays a role in colon cancer carcinogenesis. 9182290 1996
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Defects in the APC gene are inarguably linked to the progression of colon cancers that arise both sporadically and through the transmission of germline mutations. 9196022 1997
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Colon cancer. Molecular biology of the APC protein. 9296069 1997
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Therefore, this model may have some relevance and application to the study of colon cancer in human inflammatory bowel disease, which is not associated with APC mutations or with Ki-ras or p53 mutations. 9433483 1997
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Peptide-mediated precipitation experiments showed that anti-APCp1 bound and sequestered wild-type and mutant APC proteins in extracts of human colon cancer cell lines. 9663391 1998
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Loss of heterozygosity of APC and DCC tumor suppressor genes in human sporadic colon cancer. 10090594 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer. 10092300 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Mutant forms of beta-catenin have been discovered in colon cancers that retain wild-type APC genes, and also in melanomas, medulloblastomas, prostate cancer and gastric and hepatocellular carcinomas. 10201372 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease CTD_human Neonatal exposure to the food mutagen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine via breast milk or directly induces intestinal tumors in multiple intestinal neoplasia mice. 10383901 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Defects in the APC-beta-catenin pathway are common in colon cancer. 10507776 1999