Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.150 CausalMutation disease CLINVAR
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. 23335809 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. 23335809 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease CLINGEN 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. 23335809 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. 23335809 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN hamartoma tumor syndrome (PHTS) encompasses four major clinically distinct syndromes associated with germline mutations in the tumor suppressor PTEN. 19668082 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease BEFREE PHTS is a hereditary syndrome newly associated with pRCC, and PTEN IHC may be a helpful screening tool to identify pRCC patients with PHTS. 22381246 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN: hamartoma tumor syndrome (PHTS) is a group of syndromes caused by mutations in PTEN. 22628360 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. 24136893 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations of the PTEN gene. 26185318 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. 26443266 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN hamartoma tumor syndrome, of which Cowden syndrome (CS) is the most recognized variant, is characterized by multiple benign and malignant tumors of ectodermal, mesodermal, and endodermal origins, secondary to germline mutation in the phosphatase and tensin homolog (PTEN) gene. 26488716 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease BEFREE PTEN mutation positive and PTEN mutation negative women were not well differentiated by PHTS clinical criteria (P = 0.2348). 20349131 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease BEFREE Phosphatase and tensin homolog deleted on chromosome ten (PTEN)-hamartoma tumor syndrome (PHTS) is a complex disorder caused by germline inactivating mutations of the PTEN tumor suppressor gene. 21190448 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease BEFREE PTEN hamartoma of soft tissue is histopathologically distinctive, and its identification should prompt a thorough investigation for PHTS. 22446940 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.020 Biomarker disease BEFREE 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 		0.800 Biomarker disease BEFREE Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is caused by germ line mutations in the PTEN gene. 24366516 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.020 Biomarker disease BEFREE Beta catenin and tumor necrosis factor-α (TNFα) receptors were analysed in the proteins extracted from peripheral blood cells of the proband, his relatives and familial adenomatous polyposis (FAP) and PTEN hamartoma tumor syndrome (PHTS) patients. 24379584 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease 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 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease BEFREE PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female. 28756566 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease 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 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017