CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease UNIPROT
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease HPO
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 CausalMutation disease CGI
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease CTD_human However, only a minority of familial gastric cancers can be accounted for by CDH1 mutations. 10072428 1999
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease CTD_human We screened a series of 66 young gastric cancer probands for germline CDH1 mutations, and two novel missense alterations together with an intronic variant were identified. 12588804 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease CTD_human E-cadherin germline mutations in familial gastric cancer. 9537325 1998
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease CTD_human Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. 24816253 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease CTD_human We hypothesized that CDH1 genomic rearrangements would be found in HDGC and identified 160 families with either two gastric cancers in first-degree relatives and with at least one diffuse gastric cancer (DGC) diagnosed before age 50, or three or more DGC in close relatives diagnosed at any age. 19168852 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease CTD_human Silencing of CDH1 by promoter CpG island methylation was shown in gastric cancer, precancerous lesion, and Helicobacter pylori-infected chronic gastritis. 19184424 2010
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE Kras activation and Pten deletion are observed in intestinal-type gastric cancer, and Cdh1 mutation is associated with diffuse-type gastric cancer. 30168144 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE The -472delA (rs5030625) and -160C>A (rs16260) polymorphisms in CDH1 induce a decrease in gene transcription; in fact, these mutated alleles have been associated with GC in some populations, with conflicting results. 27706737 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE Gastric cancer (GC) is considered to be one of the leading cancers in East Asians, and mutations in the CDH1 gene and the reduced expression of E-cadherin are the most frequent genetic alterations in gastric cancer. 23435907 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE Familial diffuse type gastric cancer occurs due to germ-line mutations of the CDH1 gene. 16273224 2005
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE The poorly cohesive histology/CDH1-mutant GC subgroup showed the worst survival (p < 0.001). 30801717 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer. 11598162 2001
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease BEFREE A great number of genes with promoter methylation have been observed in gastric cancer (GC), among which p16INK4A (p16), Mut L homologue 1 (MLH1), Epithelial-cadherin (E-cadherin), Runt-related transcription factor 3 (RUNX3), adenomatous polyposis coli (APC), O(6)-methylguanine-DNA methyltransferase (MGMT), Ras association domain family 1A (RASSF1A) and Death-associated protein kinase (DAPK) have been extensively studied. 22936446 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE Analysis of HDGC patients harbouring CDH1 alleles with PTCs at a wide variety of different positions indicates an association of their predicted ability to induce NMD and an earlier age of onset of gastric cancer. 18427545 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE No associations between CDH1 (+54T>C, -160C>A, -347G>GA, -616G>C, -2076C>T and -3159T>C) gene polymorphisms and GC risk for all genetic models were found. 21570316 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE We have shown that germline CDH1 mutations are associated with early onset of bilateral LCIS with or without ILC in women without a family history of gastric cancer. 24366306 2014
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 PosttranslationalModification disease BEFREE CDH1 gene promoter hypermethylation in gastric cancer: relationship to Goseki grading, microsatellite instability status, and EBV invasion. 16531765 2006
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE All individuals with a CDH1 mutation had a personal or family history of diffuse gastric cancer. 26072394 2015
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 PosttranslationalModification disease BEFREE E-cadherin promoter hypermethylation induced by interleukin-1beta treatment or H. pylori infection in human gastric cancer cell lines. 18249489 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 Biomarker disease BEFREE CDH1 associated gastric cancer: a report of a family and review of the literature. 15780560 2005
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer. 17545690 2007
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.800 GeneticVariation disease BEFREE In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer. 19674071 2010