Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 GeneticVariation disease 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
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 GeneticVariation disease BEFREE Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. 10077730 1999
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 GeneticVariation disease 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
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 GeneticVariation disease 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
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 CausalMutation disease CLINVAR
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 Biomarker disease GENOMICS_ENGLAND
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 Biomarker disease CTD_human
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.640 GeneticVariation disease CLINVAR