Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) encompasses several rare disorders linked to mutations of the PTEN gene, including Cowden disease (CD) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). 25170002

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE We sought to characterize cognition in individuals with germline PTEN mutations (n = 23) as well as in PTEN mutation-negative individuals with classic Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (n = 2). 23470840

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome. 23599658

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion. 22993021

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker BEFREE PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene. 21343951

2011

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or mental retardation/developmental delays (MR/DD) and macrocephaly that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome. 20533527

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker CTD_human Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Molecular testing of the PTEN gene (phosphatase and tensin homolog protein) revealed a R355X mutation, consistent with the diagnosis of Bannayan-Riley-Ruvalcaba Syndrome (BRRS). 20814261

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker CTD_human BRRS results from mutations in the PTEN gene. 19321504

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker BEFREE PTEN, originally linked to Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, has also been associated with JPS. 18178612

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Seemingly identical pathogenic PTEN mutations have been observed in patients with CS and BRRS, as well as in patients with incomplete features of CS, referred to as CS-like (CSL) patients. 18460397

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. 17043057

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. 17427195

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker CTD_human Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. 17427195

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker BEFREE Our data suggest that PTEN modulates PLC:PLD activation pathways and indicate that the pathogenesis of CS/BRRS has a more complex biochemical basis beyond simply activating the PI3K pathway. 17405772

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE Approximately, 10% of CS-related PTEN mutations occur in the PTEN promoter and 11% of BRRS-related mutations include large deletions, often favoring the gene's 5' end (exon 1, promoter). 17341483

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 AlteredExpression BEFREE Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 16773562

2006

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE PTEN somatic mutations occur in sporadic tumors of the endometrium, brain, prostate, or melanomas, while germline mutations predispose to development of the multiple hamartoma syndromes (i.e., Cowden's disease and Bannayan-Zonana syndrome). 16487009

2006

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE We show that cell lines from Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients with germ line PTEN promoter mutations in the vicinity of the p53-binding motifs have altered p53 regulation. 16424003

2006

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), respectively. 16014636

2005

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 GeneticVariation BEFREE As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine. 15987703

2005

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 Biomarker CTD_human PTEN mutation positive BRRS and CS are likely to be different phenotypic presentations of the same syndrome. 14574156

2004