Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation 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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome. 29043291

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 GeneticVariation 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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation 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: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 GeneticVariation 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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Kinases, tails and more: regulation of PTEN function by phosphorylation. 25448482

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. 25756585

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation CLINVAR Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. 25756585

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR PTEN. 24905788

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 CausalMutation CLINVAR Posttranslational regulation of phosphatase and tensin homolog (PTEN) and its functional impact on cancer behaviors. 25336918

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014