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 GeneticVariation group 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 		0.160 CausalMutation group CLINVAR Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome. 19622968 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR PTEN: one gene, many syndromes. 12938083 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. 22261759 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
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 GeneticVariation group CLINVAR Cowden's syndrome with immunodeficiency. 26246517 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		0.160 CausalMutation group CLINVAR Genetic changes in the PTEN gene and their association with breast cancer in Pakistan. 22320991 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. 11071384 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		0.160 CausalMutation group CLINVAR Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. 22327138 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. 23934601 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 28286253 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR PTEN in colorectal cancer: a report on two Cowden syndrome patients. 21291452 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. 22381246 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		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 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 CausalMutation group CLINVAR The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. 11332402 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group 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 		0.160 GeneticVariation group CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013