DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs587780113 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587780113

CDH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

27064202

2016

dbSNP:

rs587780113

CDH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

26182300

2015

dbSNP:

rs587780113

CDH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Hereditary diffuse gastric cancer: association with lobular breast cancer.

18046629

2008

dbSNP:

rs587780113

CDH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Hereditary diffuse gastric cancer: association with lobular breast cancer.

18046629

2008

dbSNP:

rs587780113

CDH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.

11968084

2002

dbSNP:

rs587780113

CDH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.

11968084

2002