DisGeNET - a database of gene-disease associations

Hamartoma Syndrome, Multiple, C0018553

Variant: rs587782350 ×

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:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

27477328

2017

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

25394175

2015

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

24375884

2014

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.

22261759

2012

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

21828076

2011

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.

18716620

2008

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

17942903

2007

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein.

15355975

2004

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

14566704

2003

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.

11230179

2001

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.

11494117

2001

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.

10866302

2000

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

BEFREE

Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.

10076877

1999

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.

10051160

1999

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

CLINVAR

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

10400993

1999

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

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

10400993

1999

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

10234502

1999

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.

9915974

1999

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

PTEN germ-line mutations in juvenile polyposis coli.

9425889

1998

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.

9735393

1998

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

9467011

1998

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

The lipid phosphatase activity of PTEN is critical for its tumor supressor function.

9811831

1998