DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hamartoma Syndrome, Multiple ×

Gene: PTEN ×

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:

rs1057517809

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

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

27477328

2017

dbSNP:

rs1060500122

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060500126

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.800

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:

rs1060500126

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.800

GeneticVariation

UNIPROT

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

24493721

2014

dbSNP:

rs1060500126

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.800

GeneticVariation

CLINVAR

dbSNP:

rs1060500126

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.800

GeneticVariation

UNIPROT

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

15604628

2004

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

17526801

2007

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome.

29043291

2017

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

20712882

2010

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

25527629

2015

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs1064793345

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

GeneticVariation

CLINVAR

Lifetime cancer risks in individuals with germline PTEN mutations.

22252256

2012

dbSNP:

rs1064793345

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

GeneticVariation

CLINVAR

Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

22595938

2012

dbSNP:

rs1085308041

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

28677221

2017

dbSNP:

rs1085308043

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

28677221

2017

dbSNP:

rs1085308048

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.010

GeneticVariation

BEFREE

This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.

10193515

1998

dbSNP:

rs1114167621

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

28677221

2017

dbSNP:

rs1114167622

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

28677221

2017

dbSNP:

rs1114167624

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1114167640

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

CGCTT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1114167650

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

28677221

2017

dbSNP:

rs121909218

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.820

GeneticVariation

UNIPROT

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

15604628

2004

dbSNP:

rs121909218

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.820

GeneticVariation

UNIPROT

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

10400993

1999

dbSNP:

rs121909218

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.820

GeneticVariation

UNIPROT

Germline PTEN mutations in Cowden syndrome-like families.

9832031

1998

dbSNP:

rs121909218

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.820

GeneticVariation

UNIPROT

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

9467011

1998