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 CausalMutation CLINVAR A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report. 26795104

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 28286253

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. 28523199

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. 29296277

2017

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 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B. 27514801

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 CausalMutation CLINVAR TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. 27626691

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.160 GeneticVariation CLINVAR Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions. 27082424

2016

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 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015

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 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 CausalMutation 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 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

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

2015