DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: PTEN Hamartoma Tumor Syndrome ×

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:

rs886047397

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

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:

rs886047397

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

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

9467011

1998

dbSNP:

rs878853937

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs878853937

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs876660535

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs876660082

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs876659443

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs864622341

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs863224909

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786204914

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786203847

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786202398

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.

9256433

1997

dbSNP:

rs786202398

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Analysis of protein-coding genetic variation in 60,706 humans.

27535533

2016

dbSNP:

rs786202004

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786201867

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs606231170

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs606231169

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Analysis of protein-coding genetic variation in 60,706 humans.

27535533

2016

dbSNP:

rs587782350

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

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

27477328

2017

dbSNP:

rs587782350

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

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

22261759

2012

dbSNP:

rs587782350

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

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

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

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

21828076

2011

dbSNP:

rs587782350

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

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

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).

10076877

1999

dbSNP:

rs587782350

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

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

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

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

14566704

2003