DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: PTEN ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

9140396

1997

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

9259288

1997

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

9259288

1997

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.

9288766

1997

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

9399897

1997

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

9399897

1997

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

PTEN germ-line mutations in juvenile polyposis coli.

9425889

1998

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

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

9467011

1998

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

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

9467011

1998

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.

9797362

1998

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

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

9915974

1999

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

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

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

10232405

1999

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

10232405

1999

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

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

10400993

1999

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.

10468583

1999

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.

10555148

1999

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Germline PTEN mutations in three families with Cowden syndrome.

10772390

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers.

10807691

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

A novel PTEN mutation in a Japanese patient with Cowden disease.

10848731

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

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

10866302

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

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

10866302

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Phosphorylation of the PTEN tail regulates protein stability and function.

10866658

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

CausalMutation

CLINVAR

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

10920277

2000

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.160

GeneticVariation

CLINVAR

Mutations of the human PTEN gene.

10923032

2000