DisGeNET - a database of gene-disease associations

Hereditary Diffuse Gastric Cancer, C1708349

Variant: rs587783048 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587783048

CDH1

0.700

CausalMutation

CLINVAR

Germline CDH1 mutations in bilateral lobular carcinoma in situ.

24366306

2014

dbSNP:

rs587783048

CDH1

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

CDH1

0.700

CausalMutation

CLINVAR

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

23709761

2013

dbSNP:

rs587783048

CDH1

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

CDH1

0.700

CausalMutation

CLINVAR

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

17545690

2007