Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
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
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
Lhermitte-Duclos disease
|
1.000 |
CausalMutation |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
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
|
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
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation |
CLINVAR |
PTEN.
|
24905788 |
2014 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |