Source: CURATED

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 Biomarker GENOMICS_ENGLAND This case highlights the importance of early screening for PTEN mutations in cases of hemimegalencephaly not otherwise explained by another disorder, even in the absence of signs of Proteus syndrome or the full manifestations of Bannayan-Riley Ruvalcaba syndrome. 29444762

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Several of the affected genes were known to be associated with aggressive prostate cancer such as loss of PTEN, CDH1, BCAR1 and gain of MYC. 29295717

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Here we found that PML is frequently co-deleted with PTEN in metastatic human prostate cancer (CaP). 29335545

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes. 28319090

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 GeneticVariation UNIPROT Discovery and functional characterization of a neomorphic PTEN mutation. 26504226

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human In this study, we investigated the role of SIRT1 in multiple human prostate cancer cell lines and prostate-specific PTEN knockout mouse model using resveratrol. 23248098

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker GENOMICS_ENGLAND Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Dietary carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine-induced prostate carcinogenesis in CYP1A-humanized mice. 22581815

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Common genetic alterations in prostate cancer include losses of NKX3.1 (8p21) and PTEN (10q23), gains of AR (the androgen receptor gene) and fusion of ETS family transcription factor genes with androgen-responsive promoters. 22610119

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Since these miRNAs target PTEN (phosphatase and tensin homolog deleted on chromosome 10), we performed Western blot to confirm up-regulation of PTEN in PCa cells. 21714127

2011

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Regulation of phosphatase homologue of tensin protein expression by bone morphogenetic proteins in prostate epithelial cells. 21456062

2011

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker CTD_human Sequencing analysis confirmed the presence of PTEN splice-acceptor site mutation in intron 8 (c.1027-2A>G), a germline mutation which had not been previously reported in CS. 19968660

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines. 20729295

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 Biomarker CTD_human Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker CTD_human In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. 19321504

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Thus, ERG has a distinct role in prostate cancer progression and cooperates with PTEN haploinsufficiency to promote progression of HGPIN to invasive adenocarcinoma. 19396168

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 19321504

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 GeneticVariation UNIPROT The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network. 18716620

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human The pace of prostatic intraepithelial neoplasia development is determined by the timing of Pten tumor suppressor gene excision. 19081794

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker GENOMICS_ENGLAND Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker CTD_human 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker CTD_human Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. 17427195

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
1.000 Biomarker CTD_human Integrative molecular concept modeling of prostate cancer progression. 17173048

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 Biomarker CTD_human 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