Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 GeneticVariation BEFREE Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in APC. 21931686

2011
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 GeneticVariation BEFREE Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. 10077730

1999
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 GeneticVariation BEFREE These findings demonstrate (i) that FAP and FIF are allelic, and (ii) that APC gene mutations which truncate the APC protein distal to the beta-catenin binding domain are associated with desmoid tumours, absent CHRPE and variable but attenuated polyposis expression. 8968744

1996
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 GeneticVariation BEFREE We show that HDD segregates with an unusual germ-line chain-terminating mutation at the 3' end of the APC gene (codon 1924) with somatic loss of the wild-type allele leading to tumor development. 8940264

1996
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 CausalMutation CLINVAR

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 Biomarker GENOMICS_ENGLAND

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 Biomarker CTD_human

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		0.640 GeneticVariation CLINVAR