Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 28127413 2017
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537 2017
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 Biomarker disease CTD_human Transforming activity and therapeutic targeting of C-terminal-binding protein 2 in Apc-mutated neoplasia. 28414304 2017
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis. 27623068 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. 26613750 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Clinicopathological features of familial adenomatous polyposis in Korean patients. 27158207 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. 27087319 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. 26414517 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation disease CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. 27343414 2016
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. 25604157 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. 27081525 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. 26309368 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation disease CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. 24506336 2014
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 CausalMutation disease CLINVAR Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. 24549056 2014
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.400 GeneticVariation disease CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579 2014