DisGeNET - a database of gene-disease associations

Hereditary Diffuse Gastric Cancer, C1708349

Variant: rs587780784 ×

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:

rs587780784

CDH1

0.710

GeneticVariation

BEFREE

One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T).

23264079

2013

dbSNP:

rs587780784

CDH1

0.710

CausalMutation

CLINVAR

Hereditary diffuse gastric cancer: a family diagnosis and treatment.

22723466

2013

dbSNP:

rs587780784

CDH1

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:

rs587780784

CDH1

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