Gene: PTEN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group 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 		0.160 Biomarker group BEFREE PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease, Bannayan-Zonana syndrome and Lhermitte-Duclos disease. 12655146 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group BEFREE PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? 24037976 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 Biomarker group BEFREE PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. 25288137 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group 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 		0.160 GeneticVariation group 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 		0.160 CausalMutation group 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 		0.160 GeneticVariation group CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		0.160 GeneticVariation group CLINVAR A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus. 16752378 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR A global reference for human genetic variation. 26432245 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group 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 		0.160 CausalMutation group 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 		0.160 GeneticVariation group 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 		0.160 GeneticVariation group CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		0.160 GeneticVariation group 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 		0.160 CausalMutation group CLINVAR A novel PTEN mutation in a Japanese patient with Cowden disease. 10848731 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies. 21103832 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		0.160 GeneticVariation group CLINVAR A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas. 21266528 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group 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 		0.160 CausalMutation group CLINVAR Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. 11886535 2001