DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1554826024 ×

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:

rs1554826024

PTEN

0.700

GeneticVariation

CLINVAR

Cognitive characteristics of PTEN hamartoma tumor syndromes.

23470840

2013

dbSNP:

rs1554826024

PTEN

0.700

GeneticVariation

CLINVAR

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

21659347

2011

dbSNP:

rs1554826024

PTEN

0.700

GeneticVariation

CLINVAR

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

21828076

2011

dbSNP:

rs1554826024

PTEN

0.700

GeneticVariation

CLINVAR

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

15372512

2004

dbSNP:

rs1554826024

PTEN

0.700

GeneticVariation

CLINVAR

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

10555148

1999

dbSNP:

rs1554826024

PTEN

0.700

GeneticVariation

CLINVAR

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

9399897

1997