DisGeNET - a database of gene-disease associations

Source: ALL

Disease: PTEN Hamartoma Tumor Syndrome ×

Variant: rs398123317 ×

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:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

25722288

2015

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

KLLN epigenotype-phenotype associations in Cowden syndrome.

25669429

2015

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

Cowden's syndrome with immunodeficiency.

26246517

2015

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

25288137

2015

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

KLLN epigenotype-phenotype associations in Cowden syndrome.

25669429

2015

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Cowden's syndrome with immunodeficiency.

26246517

2015

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

24778394

2014

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

24778394

2014

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

20926450

2011

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

21956414

2011

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

20926450

2011

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

21956414

2011

dbSNP:

rs398123317

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:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

19457929

2009

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

19457929

2009

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.

16704655

2006

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR

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

10866302

2000

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

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

10866302

2000

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

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

9467011

1998

dbSNP:

rs398123317

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:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

CausalMutation

CLINVAR

The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.

9600246

1998

dbSNP:

rs398123317

PTEN

CUI:	C1959582
Disease:	PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

0.700

GeneticVariation

CLINVAR