Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
"Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."
|
22520842 |
2012 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
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 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
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 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
|
28086757 |
2017 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.
|
25875300 |
2015 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
|
16752378 |
2006 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A global reference for human genetic variation.
|
26432245 |
2015 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report.
|
26795104 |
2018 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
|
23161105 |
2013 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
|
23161105 |
2013 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
|
24498881 |
2014 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.
|
14675182 |
2003 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
|
18558293 |
2008 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.
|
21103832 |
2011 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
|
28526761 |
2017 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A tyrosyl-tRNA synthetase adapted to function in group I intron splicing by acquiring a new RNA binding surface.
|
15694342 |
2005 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.
|
21266528 |
2011 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
|
21822720 |
2011 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease.
|
11886535 |
2001 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.
|
22469695 |
2012 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation |
CLINVAR |
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.
|
21343951 |
2011 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation |
CLINVAR |
Analysis of protein-coding genetic variation in 60,706 humans.
|
27535533 |
2016 |