APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group UNIPROT
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 Biomarker group BEFREE The APC gene is responsible for familial adenomatous polyposis and is considered to be a tumor suppressor gene associated with development of sporadic colorectal tumors. 1310068 1992
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE These results strongly suggest that somatic mutations of the APC gene are associated with development of a great majority of colorectal tumors. 1338904 1992
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. 1338904 1992
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE These data provide strong evidence that mutations of the APC gene play a major role in the early development of colorectal neoplasms. 1528264 1992
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264 1992
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 Biomarker group MGD The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifier system. 1541640 1992
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR [The effect of occlusion time in the measurement of compliance and resistance of the respiratory system using passive expiration in infants]. 2281069 1990
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE APC and ras gene mutations have been shown to be important early molecular events in the development of colorectal neoplasms. 7923190 1994
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091 1994
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 Biomarker group BEFREE The APC gene has been found to be mutated during the development of sporadic colorectal tumors as well as in the germ line of familial adenomatous polyposis patients. 8385345 1993
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Germline mutations of the APC gene are responsible for familial adenomatous polyposis, an autosomal dominant inherited predisposition to colorectal tumors. 8389242 1993
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Mutation of the APC gene is responsible for colorectal tumors in which ras and p53 mutations are also often involved. 8609698 1996
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE The prominent role of the APC gene in colorectal tumor development is well established. 8649856 1996
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE These findings suggest that a mutation of the APC gene may play an important role in the genesis of sporadic hepatoblastomas, and the mechanisms of APC gene alteration may be different from those reported previously for colorectal tumors. 8764128 1996
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE The protein products of mutant APC genes present in colorectal tumors were found to be defective in this activity. 9065402 1997
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Thus the mutations of the APC gene may have a major role in the early development of sporadic colorectal tumors. 9083931 1997
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 Biomarker group BEFREE A number of other tumor suppressor genes, APC gene, p53, and DCC have also been implicated in colorectal tumor carcigenesis. 9422268 1997
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Since the alteration of the APC gene occurs early in most colorectal tumors, the detection of APC mutations in fecal tumor DNA by HD-PCR may be a powerful tool in non-invasive cancer diagnostics. 9450908 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Although mutation of the APC gene is an integral component of sporadic colorectal carcinogenesis, alteration in the region including the MOM gene does not appear to play a significant role in the development or clinicopathologic behavior of human sporadic colorectal tumors. 9527272 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Distinct genetic abnormalities (loss-of-function mutations of APC and p53 and oncogenic activation of Ki-ras) are associated with specific stages of the sporadic, most common types of colorectal tumors. 9541486 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Recently, however, a missense variant of APC (I1307K) was described that confers an increased risk of colorectal tumors, including multiple adenomas, in Ashkenazim. 9724771 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE These findings support a model where somatic instability of the (A)8 tract produced by the APC I1307K allele leads to increased APC gene inactivation and directly accounts for 42% of the colorectal neoplasms occurring in APC I1307K carriers. 9751605 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Mutations in the adenomatous polyposis coli (APC) gene are linked to the dysplastic transformation of colorectal polyps and represent an early step in the development of colorectal tumors. 10188731 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.900 GeneticVariation group BEFREE Turcot's syndrome is characterized clinically by the occurrence of primary brain tumor and colorectal tumor and has in previous reports been shown to be associated with germline mutations in the genes APC, hMLH1, and hPMS2. 10337989 1999