CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Hereditary Diffuse Gastric Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.720 GeneticVariation BEFREE Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling. 29769627 2018
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.720 GeneticVariation BEFREE These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing. 27880784 2016
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.720 CausalMutation CLINVAR CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 23709761 2013
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.720 CausalMutation CLINVAR These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing. 27880784 2016
dbSNP: rs746481984
rs746481984
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.720 CausalMutation CLINVAR Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling. 29769627 2018
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		0.710 GeneticVariation BEFREE One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T). 23264079 2013
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.710 CausalMutation CLINVAR Hereditary diffuse gastric cancer: a family diagnosis and treatment. 22723466 2013
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.710 CausalMutation CLINVAR Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. 16061854 2005
dbSNP: rs587780784
rs587780784
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.710 CausalMutation CLINVAR CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. 17522512 2007
dbSNP: rs1057517542
rs1057517542
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501214
rs1060501214
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501215
rs1060501215
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. 10433926 1999
dbSNP: rs1060501215
rs1060501215
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690 2007
dbSNP: rs1060501224
rs1060501224
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300 2015
dbSNP: rs1060501224
rs1060501224
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300 2015
dbSNP: rs1060501226
rs1060501226
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. 10072428 1999
dbSNP: rs1060501226
rs1060501226
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR CDH1 associated gastric cancer: a report of a family and review of the literature. 15780560 2005
dbSNP: rs1060501226
rs1060501226
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. 17221870 2007
dbSNP: rs1060501237
rs1060501237
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		C 0.700 GeneticVariation CLINVAR Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 15235021 2004
dbSNP: rs1060501237
rs1060501237
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		C 0.700 GeneticVariation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070 2010
dbSNP: rs1060501244
rs1060501244
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 15235021 2004
dbSNP: rs1060501244
rs1060501244
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy. 18442100 2008
dbSNP: rs1060501244
rs1060501244
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690 2007
dbSNP: rs1060501244
rs1060501244
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1. 26072394 2015
dbSNP: rs1060501244
rs1060501244
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C1708349
Disease:
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 15235021 2004