DisGeNET - a database of gene-disease associations

PTEN Hamartoma Tumor Syndrome, C1959582

Variant: rs1564830522 ×

Source: CURATED ×

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:

rs1564830522

PTEN

0.700

CausalMutation

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:

rs1564830522

PTEN

0.700

CausalMutation

CLINVAR

PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.

11918710

2002

dbSNP:

rs1564830522

PTEN

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