Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 GeneticVariation CLINVAR Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 15831593

2006

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 23709761

2013

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. 17221870

2007

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation. 26025002

2015

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. 19965908

2010

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690

2007

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. 18427545

2008

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients. 27995193

2016

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 15831593

2006

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 CausalMutation CLINVAR The identification and management of hereditary diffuse gastric cancer in a large Jordanian family. 21681551

2011

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 GeneticVariation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690

2007

dbSNP: rs587783050
rs587783050
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
A 0.700 GeneticVariation CLINVAR Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. 17221870

2007

dbSNP: rs587783048
rs587783048
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. 18427545

2008

dbSNP: rs587783048
rs587783048
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 23709761

2013

dbSNP: rs587783048
rs587783048
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690

2007

dbSNP: rs587783048
rs587783048
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. 22850631

2013

dbSNP: rs587783048
rs587783048
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR Germline CDH1 mutations in bilateral lobular carcinoma in situ. 24366306

2014

dbSNP: rs587783047
rs587783047
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. 22020549

2012

dbSNP: rs587783047
rs587783047
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome. 24493355

2014

dbSNP: rs587783047
rs587783047
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. 9751616

1998

dbSNP: rs587782798
rs587782798
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 CausalMutation CLINVAR CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 23709761

2013

dbSNP: rs587782750
rs587782750
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587781290
rs587781290
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
TA 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

dbSNP: rs587781290
rs587781290
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
TA 0.700 CausalMutation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727

2015