DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs398123329 ×

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:

rs398123329

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

25549896

2015

dbSNP:

rs398123329

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

20712882

2010

dbSNP:

rs398123329

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Cellular transformation by the MSP58 oncogene is inhibited by its physical interaction with the PTEN tumor suppressor.

15659546

2005