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 Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 16704655

2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PTEN function: the long and the short of it. 24656806

2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR A global reference for human genetic variation. 26432245

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. 15372512

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PTEN C-terminal deletion causes genomic instability and tumor development. 24561254

2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature. 15120218

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240. 22891331

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. 19457929

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. 25722288

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Phosphorylation of the PTEN tail regulates protein stability and function. 10866658

2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome. 15211648

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Prognostic significance of biallelic loss of PTEN in clear cell renal cell carcinoma. 24704020

2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583

1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.160 GeneticVariation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015