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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. 23335809

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN A series of 3,399 individuals meeting relaxed International Cowden Consortium PHTS criteria were prospectively recruited; 368 individuals were found to have deleterious germline PTEN mutations. 22252256

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018

2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Ubiquitination regulates PTEN nuclear import and tumor suppression. 17218261

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703

2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN PTEN mutations are common in sporadic microsatellite stable colorectal cancer. 14724591

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156

2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. 11685670

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human 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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Pten is essential for embryonic development and tumour suppression. 9697695

1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800

1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker GENOMICS_ENGLAND