DisGeNET - a database of gene-disease associations

Hereditary Diffuse Gastric Cancer, C1708349

Variant: rs1555516200 ×

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:

rs1555516200

CDH1

GTT

0.700

CausalMutation

CLINVAR

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study.

24389957

2014

dbSNP:

rs1555516200

CDH1

0.700

CausalMutation

CLINVAR

Metastatic tumor evolution and organoid modeling implicate TGFBR2 as a cancer driver in diffuse gastric cancer.

25315765

2014

dbSNP:

rs1555516200

CDH1

0.700

CausalMutation

CLINVAR

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

22020549

2012

dbSNP:

rs1555516200

CDH1

0.700

CausalMutation

CLINVAR

Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.

18391748

2008