|
rs9929218
|
|
Colorectal Carcinoma
|
G |
0.850 |
GeneticVariation
|
GWASCAT |
We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).
|
19011631 |
2008 |
|
rs9929218
|
|
Colorectal Carcinoma
|
G |
0.850 |
GeneticVariation
|
GWASDB |
We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)).
|
19011631 |
2008 |
|
rs1555515445
|
|
BLEPHAROCHEILODONTIC SYNDROME 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
|
28301459 |
2017 |
|
rs1555515445
|
|
BLEPHAROCHEILODONTIC SYNDROME 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs746481984
|
|
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 |
|
rs746481984
|
|
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 |
|
rs746481984
|
|
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 |
|
rs746481984
|
|
Stomach Carcinoma
|
G |
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs587780784
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Hereditary diffuse gastric cancer: a family diagnosis and treatment.
|
22723466 |
2013 |
|
rs587780784
|
|
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 |
|
rs587780784
|
|
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 |
|
rs9929218
|
|
Malignant tumor of colon
|
G |
0.710 |
GeneticVariation
|
GWASCAT |
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
|
19011631 |
2008 |
|
rs9939049
|
|
Colorectal Carcinoma
|
A |
0.710 |
GeneticVariation
|
GWASCAT |
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
|
31089142 |
2019 |
|
rs1057517542
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057517542
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057517542
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1060501214
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1060501215
|
|
Hereditary Diffuse Gastric Cancer
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
|
17545690 |
2007 |
|
rs1060501215
|
|
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 |
|
rs1060501224
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
|
26182300 |
2015 |
|
rs1060501224
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
|
26182300 |
2015 |
|
rs1060501226
|
|
Hereditary Diffuse Gastric Cancer
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.
|
17221870 |
2007 |
|
rs1060501226
|
|
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 |
|
rs1060501226
|
|
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 |
|
rs1060501237
|
|
Hereditary Diffuse Gastric Cancer
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
|
20373070 |
2010 |