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: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292-4293-Del GA, caused Gardner syndrome in this family. 28782241 2018
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Subsequent testing for an APC mutation seen in GS and FAP was negative in our patient. 30269086 2018
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE WES revealed a novel germline frameshift variant (p.E1554fs) in APC, establishing a diagnosis of Gardner syndrome, along with a somatic nonsense (p.R790*) APC mutation in the tumor. 27799065 2016
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Gardner's syndrome is the association of familial adenomatous polyposis (FAP) with an anaphase promoting complex (APC) gene mutation and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumours. 27291484 2016
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis. 20141232 2010
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Alterations of APC, including loss of the entire locus, and CTNNB1 mutation could explain the tumorigenesis in 89% of sporadic desmoids tumors and desmoids tumors occurring in the context of Gardner's syndrome. 20232483 2010
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE The E1573X mutation is the most distal mutation in the APC sequence reported to date as a mosaic and, interestingly, in the context of Gardner syndrome with extensive extracolonic features. 19617769 2009
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and familial adenomatous polyposis (FAP). 16411234 2006
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality. 15095859 2004
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Different mutations in the adenomatous polyposis coli (APC) gene have been shown to be associated with Gardner syndrome disease phenotypes. 14616385 2003
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Somatic beta-catenin or APC gene mutations have been reported in < or =74% of sporadic deep fibromatoses and in virtually 100% of Gardner syndrome-associated fibromatoses, whereas genetic events in superficial fibromatoses remain less well characterized. 11455002 2001
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE This study reports novel FAP- and Gardner syndrome-causing mutations in the APC gene. 11145293 2000
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. 7485167 1995
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal carcinogenesis and that mutations at the APC gene can cause both adenomatous polyposis coli and Gardner's syndrome. 1324739 1992
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 GeneticVariation disease BEFREE These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS. 1651563 1991
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 Biomarker disease BEFREE These and published results including data on several constitutional deletions (M, SD, and brothers PW and ND) give a probable order of [cen] - [II227, proximal SD breakpoint] - [Cllpll] - [proximal PW/ND, M breakpoint(s), GM03314 breakpoint] - [ECB27] - [APC] - [YN5.48] - [distal PW/ND breakpoint] - [ECB134] - [distal M breakpoint] - [qter]. 1665706 1991
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 CausalMutation disease CLINVAR
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.500 Biomarker disease GENOMICS_ENGLAND