Source: ALL

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 GeneticVariation CLINVAR Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. 9797362

1998
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 GeneticVariation CLINVAR Cowden's syndrome with immunodeficiency. 26246517

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. 23934601

2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
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 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 PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation. 17324556

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Frequency of germline PTEN mutations in differentiated thyroid cancer. 21417916

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
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PTEN: a new guardian of the genome. 18794879

2008
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome. 11918710

2002
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Unique biochemical properties of the protein tyrosine phosphatase activity of PTEN-demonstration of different active site structural requirements for phosphopeptide and phospholipid phosphatase activities of PTEN. 20685300

2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers. 10807691

2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care. 26076150

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53. 20926450

2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. 23124040

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation BEFREE Cowden syndrome is a hereditary cancer syndrome associated with a germline mutation in PTEN. 23764071

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. 16014636

2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897

1997