DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs562015640 ×

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:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

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

18716620

2008

dbSNP:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

PTEN: a new guardian of the genome.

18794879

2008

dbSNP:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN.

17218260

2007

dbSNP:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

Ubiquitination regulates PTEN nuclear import and tumor suppression.

17218261

2007

dbSNP:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

Protean PTEN: form and function.

11875759

2002

dbSNP:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor.

11156408

2000

dbSNP:

rs562015640

PTEN

0.700

GeneticVariation

CLINVAR

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

9797362

1998

dbSNP:

rs562015640

PTEN

0.700

CausalMutation

CLINVAR