DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs587782360 ×

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:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

The functions and regulation of the PTEN tumour suppressor.

22473468

2012

dbSNP:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

21194675

2011

dbSNP:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.

16894538

2006

dbSNP:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

PTEN: one gene, many syndromes.

12938083

2003

dbSNP:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

Assessment of the quality and frequency of mutations occurrence in PTEN gene in endometrial carcinomas and hyperplasias.

11849740

2002

dbSNP:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

Mutations of PTEN/MMAC1 in primary prostate cancers from Chinese patients.

11234884

2001

dbSNP:

rs587782360

PTEN

0.700

CausalMutation

CLINVAR

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

10400993

1999