Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 GeneticVariation CLINVAR A global reference for human genetic variation. 26432245

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016