Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation BEFREE PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. 25549896

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 Biomarker BEFREE CS is part of a larger syndrome called PTEN hamartomatous syndrome, which also includes Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (Eng, 2014). 25158662

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation BEFREE PTEN gene (phosphatase and tensin homolog deleted on chromosome ten, MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus-like syndrome. 23124040

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 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: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 CausalMutation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 Biomarker CTD_human Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein. 15355975

2004

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 CausalMutation CLINVAR Proteus syndrome: misdiagnosis with PTEN mutations. 14518070

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 Biomarker CTD_human Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 CausalMutation CLINVAR Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation BEFREE Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL). 12938083

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 Biomarker CTD_human A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304

2002

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. 11230179

2001

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 11494117

2001

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 CausalMutation CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation BEFREE Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 CausalMutation CLINVAR Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future. 10749983

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 CausalMutation CLINVAR Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 10353779

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 10234502

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Germline PTEN mutations in Cowden syndrome-like families. 9832031

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. 10051160

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.750 GeneticVariation UNIPROT Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. 9616126

1998